nsv3915267
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:28
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,765,645
- Description:
See descriptions for individual calls in download files
- ClinVar: RCV000050252.9
- ClinVar: RCV000050260.9
- ClinVar: RCV000050288.8
- ClinVar: RCV000050301.9
- ClinVar: RCV000050303.5
- ClinVar: RCV000050741.8
- ClinVar: RCV000133669.5
- ClinVar: RCV000133836.5
- ClinVar: RCV000134826.5
- ClinVar: RCV000134855.5
- ClinVar: RCV000135951.5
- ClinVar: RCV000136044.5
- ClinVar: RCV000136045.5
- ClinVar: RCV000136435.5
- ClinVar: RCV000137211.5
- ClinVar: RCV000138840.5
- ClinVar: RCV000138910.5
- ClinVar: RCV000139094.5
- ClinVar: RCV000139320.5
- ClinVar: RCV000139485.5
- ClinVar: RCV000139516.5
- ClinVar: RCV000142911.5
- ClinVar: RCV000142931.5
- ClinVar: RCV000148181.5
- ClinVar: RCV000148189.4
- ClinVar: RCV000148209.3
- ClinVar: RCV000148240.3
- ClinVar: RCV000148258.3
- ClinVar: VCV000031951.2
- ClinVar: VCV000032317.2
- ClinVar: VCV000032321.2
- ClinVar: VCV000032820.2
- ClinVar: VCV000033676.2
- ClinVar: VCV000144187.2
- ClinVar: VCV000144354.2
- ClinVar: VCV000145457.2
- ClinVar: VCV000145488.2
- ClinVar: VCV000146700.2
- ClinVar: VCV000146805.2
- ClinVar: VCV000146806.2
- ClinVar: VCV000147214.2
- ClinVar: VCV000148133.2
- ClinVar: VCV000149897.2
- ClinVar: VCV000149982.2
- ClinVar: VCV000150205.2
- ClinVar: VCV000150472.2
- ClinVar: VCV000150663.2
- ClinVar: VCV000150698.2
- ClinVar: VCV000154844.2
- ClinVar: VCV000154864.2
- ClinVar: VCV000160950.1
- ClinVar: VCV000160959.1
- ClinVar: VCV000160988.1
- ClinVar: VCV000161022.1
- ClinVar: VCV000161043.1
- ClinVar: VCV000161044.1
- dbVar: nssv1601653
- dbVar: nssv1601892
- dbVar: nssv1602057
- dbVar: nssv1602121
- dbVar: nssv1602543
- dbVar: nssv1602784
- dbVar: nssv1603015
- dbVar: nssv1603232
- dbVar: nssv1603300
- dbVar: nssv1603316
- dbVar: nssv1603669
- dbVar: nssv1603859
- dbVar: nssv1604049
- dbVar: nssv1604572
- dbVar: nssv1605161
- dbVar: nssv3395843
- dbVar: nssv3395941
- dbVar: nssv3395945
- dbVar: nssv3396028
- dbVar: nssv3396111
- dbVar: nssv3396150
- dbVar: nssv3396201
- dbVar: nssv3396206
- dbVar: nssv3396230
- dbVar: nssv3396241
- dbVar: nssv3396293
- dbVar: nssv3396302
- dbVar: nssv3396322
- dbVar: nssv3396361
- dbVar: nssv3396426
- dbVar: nssv3396427
- dbVar: nssv3396442
- dbVar: nssv3396649
- dbVar: nssv3396656
- dbVar: nssv575272
- dbVar: nssv575317
- dbVar: nssv575332
- dbVar: nssv575334
- dbVar: nssv575353
- dbVar: nssv575387
- dbVar: nssv575403
- dbVar: nssv575428
- dbVar: nssv575453
- dbVar: nssv575457
- dbVar: nssv575563
- dbVar: nssv575638
- dbVar: nssv575659
- dbVar: nssv575688
- dbVar: nssv575724
- dbVar: nssv575725
- dbVar: nssv575732
- dbVar: nssv575769
- dbVar: nssv575791
- dbVar: nssv575930
- dbVar: nssv576456
- dbVar: nssv576484
- dbVar: nssv576598
- dbVar: nssv576625
- dbVar: nssv576662
- dbVar: nssv576700
- dbVar: nssv576761
- dbVar: nssv576772
- dbVar: nssv576787
- dbVar: nssv576795
- dbVar: nssv576803
- dbVar: nssv577292
- dbVar: nssv577303
- dbVar: nssv577314
- dbVar: nssv577325
- dbVar: nssv577337
- dbVar: nssv577348
- dbVar: nssv577359
- dbVar: nssv577370
- dbVar: nssv577381
- dbVar: nssv577392
- dbVar: nssv577403
- dbVar: nssv577414
- dbVar: nssv577425
- dbVar: nssv577436
- dbVar: nssv577448
- dbVar: nssv577459
- dbVar: nssv577470
- dbVar: nssv577481
- dbVar: nssv577492
- dbVar: nssv577503
- dbVar: nssv579487
- dbVar: nssv579498
- dbVar: nssv579520
- dbVar: nssv579542
- dbVar: nssv579564
- dbVar: nssv579576
- dbVar: nssv582072
- dbVar: nssv584157
- dbVar: nssv584254
- dbVar: nssv584260
- dbVar: nssv706512
- dbVar: nssv706537
- dbVar: nssv706549
- dbVar: nssv706575
- dbVar: nssv706577
- dbVar: nssv706847
- dbVar: nssv707531
- dbVar: nsv1067575
- dbVar: nsv1067648
- dbVar: nsv1067706
- dbVar: nsv1067751
- dbVar: nsv491589
- dbVar: nsv491663
- dbVar: nsv491684
- dbVar: nsv491699
- dbVar: nsv491917
- dbVar: nsv497924
- dbVar: nsv497954
- dbVar: nsv529347
- dbVar: nsv533242
- dbVar: nsv533341
- dbVar: nsv533726
- dbVar: nsv534642
- dbVar: nsv916138
- dbVar: nsv916225
- dbVar: nsv916237
- dbVar: nsv916455
- dbVar: nsv916739
- dbVar: nsv916951
- dbVar: nsv916987
- Overlapping Genes
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 7163 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 3163 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 1914 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3915267 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 46,157,935 | 47,923,579 |
| nsv3915267 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 47,006,954 | 47,531,169 |
| nsv3915267 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 46,404,919 | 47,017,657 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145648 | copy number loss | Multiple | Multiple | See cases | Benign | ClinVar | RCV000050303.5, VCV000161043.1 | 1 |
| nssv15145829 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000136435.5, VCV000147214.2 | 3 |
| nssv15145854 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000137211.5, VCV000148133.2 | 3 |
| nssv15145916 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000138910.5, VCV000149982.2 | 3 |
| nssv15146048 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000142931.5, VCV000154864.2 | 3 |
| nssv15146162 | copy number loss | Multiple | Multiple | See cases | Benign | ClinVar | RCV000050260.9, VCV000031951.2 | 1 |
| nssv15146167 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000050301.9, VCV000032820.2 | 3 |
| nssv15146191 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000050741.8, VCV000032321.2 | 3 |
| nssv15146308 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000050252.9, VCV000032317.2 | 3 |
| nssv15146309 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000050288.8, VCV000033676.2 | 3 |
| nssv15146647 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000134826.5, VCV000145457.2 | 3 |
| nssv15146686 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000136044.5, VCV000146805.2 | 3 |
| nssv15146810 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000148181.5, VCV000160950.1 | 3 |
| nssv15146811 | copy number loss | Multiple | Multiple | See cases | Benign | ClinVar | RCV000148189.4, VCV000160959.1 | 1 |
| nssv15146814 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000148240.3, VCV000161022.1 | 3 |
| nssv15147234 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000133669.5, VCV000144187.2 | 3 |
| nssv15147477 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000139094.5, VCV000150205.2 | 3 |
| nssv15147492 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000139485.5, VCV000150663.2 | 3 |
| nssv15147966 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000133836.5, VCV000144354.2 | 3 |
| nssv15148015 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000134855.5, VCV000145488.2 | 3 |
| nssv15148067 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000135951.5, VCV000146700.2 | 3 |
| nssv15148072 | copy number loss | Multiple | Multiple | See cases | Benign | ClinVar | RCV000136045.5, VCV000146806.2 | 1 |
| nssv15148286 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000148209.3, VCV000160988.1 | 3 |
| nssv15148291 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000148258.3, VCV000161044.1 | 3 |
| nssv15148871 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000138840.5, VCV000149897.2 | 3 |
| nssv15148883 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000139320.5, VCV000150472.2 | 3 |
| nssv15148886 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000139516.5, VCV000150698.2 | 3 |
| nssv15148983 | copy number loss | Multiple | Multiple | See cases | Benign | ClinVar | RCV000142911.5, VCV000154844.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15145648 | Submitted genomic | NC_000010.11:g.(?_ 46157935)_(4792357 9_?)del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 46,157,935 | 47,923,579 | ||
| nssv15145829 | Submitted genomic | NC_000010.11:g.(?_ 46157935)_(4792357 9_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 46,157,935 | 47,923,579 | ||
| nssv15145854 | Submitted genomic | NC_000010.11:g.(?_ 46157935)_(4792357 9_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 46,157,935 | 47,923,579 | ||
| nssv15145916 | Submitted genomic | NC_000010.11:g.(?_ 46157935)_(4792357 9_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 46,157,935 | 47,923,579 | ||
| nssv15146048 | Submitted genomic | NC_000010.11:g.(?_ 46157935)_(4792357 9_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 46,157,935 | 47,923,579 | ||
| nssv15146162 | Submitted genomic | NC_000010.11:g.(?_ 46157935)_(4792357 9_?)del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 46,157,935 | 47,923,579 | ||
| nssv15146167 | Submitted genomic | NC_000010.11:g.(?_ 46157935)_(4792357 9_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 46,157,935 | 47,923,579 | ||
| nssv15146191 | Submitted genomic | NC_000010.11:g.(?_ 46157935)_(4792357 9_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 46,157,935 | 47,923,579 | ||
| nssv15146308 | Submitted genomic | NC_000010.11:g.(?_ 46157935)_(4792357 9_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 46,157,935 | 47,923,579 | ||
| nssv15146309 | Submitted genomic | NC_000010.11:g.(?_ 46157935)_(4792357 9_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 46,157,935 | 47,923,579 | ||
| nssv15146647 | Submitted genomic | NC_000010.11:g.(?_ 46157935)_(4792357 9_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 46,157,935 | 47,923,579 | ||
| nssv15146686 | Submitted genomic | NC_000010.11:g.(?_ 46157935)_(4792357 9_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 46,157,935 | 47,923,579 | ||
| nssv15146810 | Submitted genomic | NC_000010.11:g.(?_ 46157935)_(4792357 9_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 46,157,935 | 47,923,579 | ||
| nssv15146811 | Submitted genomic | NC_000010.11:g.(?_ 46157935)_(4792357 9_?)del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 46,157,935 | 47,923,579 | ||
| nssv15146814 | Submitted genomic | NC_000010.11:g.(?_ 46157935)_(4792357 9_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 46,157,935 | 47,923,579 | ||
| nssv15147234 | Submitted genomic | NC_000010.11:g.(?_ 46157935)_(4792357 9_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 46,157,935 | 47,923,579 | ||
| nssv15147477 | Submitted genomic | NC_000010.11:g.(?_ 46157935)_(4792357 9_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 46,157,935 | 47,923,579 | ||
| nssv15147492 | Submitted genomic | NC_000010.11:g.(?_ 46157935)_(4792357 9_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 46,157,935 | 47,923,579 | ||
| nssv15147966 | Submitted genomic | NC_000010.11:g.(?_ 46157935)_(4792357 9_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 46,157,935 | 47,923,579 | ||
| nssv15148015 | Submitted genomic | NC_000010.11:g.(?_ 46157935)_(4792357 9_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 46,157,935 | 47,923,579 | ||
| nssv15148067 | Submitted genomic | NC_000010.11:g.(?_ 46157935)_(4792357 9_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 46,157,935 | 47,923,579 | ||
| nssv15148072 | Submitted genomic | NC_000010.11:g.(?_ 46157935)_(4792357 9_?)del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 46,157,935 | 47,923,579 | ||
| nssv15148286 | Submitted genomic | NC_000010.11:g.(?_ 46157935)_(4792357 9_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 46,157,935 | 47,923,579 | ||
| nssv15148291 | Submitted genomic | NC_000010.11:g.(?_ 46157935)_(4792357 9_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 46,157,935 | 47,923,579 | ||
| nssv15148871 | Submitted genomic | NC_000010.11:g.(?_ 46157935)_(4792357 9_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 46,157,935 | 47,923,579 | ||
| nssv15148883 | Submitted genomic | NC_000010.11:g.(?_ 46157935)_(4792357 9_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 46,157,935 | 47,923,579 | ||
| nssv15148886 | Submitted genomic | NC_000010.11:g.(?_ 46157935)_(4792357 9_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 46,157,935 | 47,923,579 | ||
| nssv15148983 | Submitted genomic | NC_000010.11:g.(?_ 46157935)_(4792357 9_?)del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 46,157,935 | 47,923,579 | ||
| nssv15146811 | Remapped | Good | NW_003871068.1:g.( ?_429050)_(2113475 _?)del | GRCh37.p13 | First Pass | NW_003871068.1 | Chr10|NW_0 03871068.1 | 429,050 | 2,113,475 |
| nssv15147234 | Remapped | Good | NW_003871068.1:g.( ?_429050)_(2113475 _?)dup | GRCh37.p13 | First Pass | NW_003871068.1 | Chr10|NW_0 03871068.1 | 429,050 | 2,113,475 |
| nssv15148886 | Submitted genomic | NW_003871068.1:g.( ?_431049)_(2010264 _?)dup | GRCh37.p13 | NW_003871068.1 | Chr10|NW_0 03871068.1 | 431,049 | 2,010,264 | ||
| nssv15146811 | Remapped | Pass | NC_000010.10:g.(?_ 46984913)_(4765514 6_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 46,984,913 | 47,655,146 |
| nssv15147234 | Remapped | Pass | NC_000010.10:g.(?_ 46984913)_(4811552 5_?)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 46,984,913 | 48,115,525 |
| nssv15148983 | Submitted genomic | NC_000010.10:g.(?_ 46951229)_(4776854 0_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 46,951,229 | 47,768,540 | ||
| nssv15148072 | Submitted genomic | NC_000010.10:g.(?_ 46984913)_(4759097 9_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 46,984,913 | 47,590,979 | ||
| nssv15146162 | Submitted genomic | NC_000010.10:g.(?_ 46984913)_(4765514 6_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 46,984,913 | 47,655,146 | ||
| nssv15145648 | Submitted genomic | NC_000010.10:g.(?_ 47006954)_(4753116 9_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,006,954 | 47,531,169 | ||
| nssv15145916 | Submitted genomic | NC_000010.10:g.(?_ 47006954)_(4753116 9_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,006,954 | 47,531,169 | ||
| nssv15146048 | Submitted genomic | NC_000010.10:g.(?_ 47006954)_(4753116 9_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,006,954 | 47,531,169 | ||
| nssv15146167 | Submitted genomic | NC_000010.10:g.(?_ 47006954)_(4753116 9_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,006,954 | 47,531,169 | ||
| nssv15146308 | Submitted genomic | NC_000010.10:g.(?_ 47006954)_(4753116 9_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,006,954 | 47,531,169 | ||
| nssv15146647 | Submitted genomic | NC_000010.10:g.(?_ 47006954)_(4753116 9_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,006,954 | 47,531,169 | ||
| nssv15146686 | Submitted genomic | NC_000010.10:g.(?_ 47006954)_(4753116 9_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,006,954 | 47,531,169 | ||
| nssv15146810 | Submitted genomic | NC_000010.10:g.(?_ 47006954)_(4753116 9_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,006,954 | 47,531,169 | ||
| nssv15147492 | Submitted genomic | NC_000010.10:g.(?_ 47006954)_(4753116 9_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,006,954 | 47,531,169 | ||
| nssv15147966 | Submitted genomic | NC_000010.10:g.(?_ 47006954)_(4753116 9_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,006,954 | 47,531,169 | ||
| nssv15148067 | Submitted genomic | NC_000010.10:g.(?_ 47006954)_(4753116 9_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,006,954 | 47,531,169 | ||
| nssv15148291 | Submitted genomic | NC_000010.10:g.(?_ 47006954)_(4753116 9_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,006,954 | 47,531,169 | ||
| nssv15145829 | Submitted genomic | NC_000010.10:g.(?_ 47006954)_(4770255 8_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,006,954 | 47,702,558 | ||
| nssv15145854 | Submitted genomic | NC_000010.10:g.(?_ 47006954)_(4776852 2_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,006,954 | 47,768,522 | ||
| nssv15148015 | Submitted genomic | NC_000010.10:g.(?_ 47006954)_(4776854 0_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,006,954 | 47,768,540 | ||
| nssv15148871 | Submitted genomic | NC_000010.10:g.(?_ 47006954)_(4776854 0_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,006,954 | 47,768,540 | ||
| nssv15146309 | Submitted genomic | NC_000010.10:g.(?_ 47033385)_(4753116 9_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,033,385 | 47,531,169 | ||
| nssv15148286 | Submitted genomic | NC_000010.10:g.(?_ 47033385)_(4753116 9_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,033,385 | 47,531,169 | ||
| nssv15146191 | Submitted genomic | NC_000010.10:g.(?_ 47074802)_(4753116 9_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,074,802 | 47,531,169 | ||
| nssv15146814 | Submitted genomic | NC_000010.10:g.(?_ 47074802)_(4753116 9_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,074,802 | 47,531,169 | ||
| nssv15147477 | Submitted genomic | NC_000010.10:g.(?_ 47074860)_(4753116 9_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,074,860 | 47,531,169 | ||
| nssv15148883 | Submitted genomic | NC_000010.10:g.(?_ 47074860)_(4753116 9_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,074,860 | 47,531,169 | ||
| nssv15148886 | Submitted genomic | NC_000010.9:g.(?_4 6029938)_(47744290 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 46,029,938 | 47,744,290 | ||
| nssv15145854 | Submitted genomic | NC_000010.9:g.(?_4 6369261)_(47238528 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 46,369,261 | 47,238,528 | ||
| nssv15145916 | Submitted genomic | NC_000010.9:g.(?_4 6371235)_(47060985 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 46,371,235 | 47,060,985 | ||
| nssv15146647 | Submitted genomic | NC_000010.9:g.(?_4 6371235)_(47125064 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 46,371,235 | 47,125,064 | ||
| nssv15148871 | Submitted genomic | NC_000010.9:g.(?_4 6371235)_(47238546 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 46,371,235 | 47,238,546 | ||
| nssv15148983 | Submitted genomic | NC_000010.9:g.(?_4 6371235)_(47238546 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 46,371,235 | 47,238,546 | ||
| nssv15145829 | Submitted genomic | NC_000010.9:g.(?_4 6371268)_(47172564 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 46,371,268 | 47,172,564 | ||
| nssv15148067 | Submitted genomic | NC_000010.9:g.(?_4 6404808)_(47125152 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 46,404,808 | 47,125,152 | ||
| nssv15145648 | Submitted genomic | NC_000010.9:g.(?_4 6404919)_(47017657 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 46,404,919 | 47,017,657 | ||
| nssv15146167 | Submitted genomic | NC_000010.9:g.(?_4 6404919)_(47017657 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 46,404,919 | 47,017,657 | ||
| nssv15148291 | Submitted genomic | NC_000010.9:g.(?_4 6404919)_(47017657 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 46,404,919 | 47,017,657 | ||
| nssv15146048 | Submitted genomic | NC_000010.9:g.(?_4 6404919)_(47018978 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 46,404,919 | 47,018,978 | ||
| nssv15146686 | Submitted genomic | NC_000010.9:g.(?_4 6404919)_(47060985 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 46,404,919 | 47,060,985 | ||
| nssv15148072 | Submitted genomic | NC_000010.9:g.(?_4 6404919)_(47060985 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 46,404,919 | 47,060,985 | ||
| nssv15147966 | Submitted genomic | NC_000010.9:g.(?_4 6404919)_(47061001 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 46,404,919 | 47,061,001 | ||
| nssv15147492 | Submitted genomic | NC_000010.9:g.(?_4 6404919)_(47125064 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 46,404,919 | 47,125,064 | ||
| nssv15146162 | Submitted genomic | NC_000010.9:g.(?_4 6404919)_(47125152 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 46,404,919 | 47,125,152 | ||
| nssv15146308 | Submitted genomic | NC_000010.9:g.(?_4 6404919)_(47125152 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 46,404,919 | 47,125,152 | ||
| nssv15146810 | Submitted genomic | NC_000010.9:g.(?_4 6404919)_(47125152 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 46,404,919 | 47,125,152 | ||
| nssv15146811 | Submitted genomic | NC_000010.9:g.(?_4 6404919)_(47125152 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 46,404,919 | 47,125,152 | ||
| nssv15148015 | Submitted genomic | NC_000010.9:g.(?_4 6404919)_(47238546 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 46,404,919 | 47,238,546 | ||
| nssv15147234 | Submitted genomic | NC_000010.9:g.(?_4 6404919)_(47735531 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 46,404,919 | 47,735,531 | ||
| nssv15146309 | Submitted genomic | NC_000010.9:g.(?_4 6453391)_(47125152 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 46,453,391 | 47,125,152 | ||
| nssv15148286 | Submitted genomic | NC_000010.9:g.(?_4 6453391)_(47125152 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 46,453,391 | 47,125,152 | ||
| nssv15146191 | Submitted genomic | NC_000010.9:g.(?_4 6494808)_(47125152 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 46,494,808 | 47,125,152 | ||
| nssv15146814 | Submitted genomic | NC_000010.9:g.(?_4 6494808)_(47125152 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 46,494,808 | 47,125,152 | ||
| nssv15148883 | Submitted genomic | NC_000010.9:g.(?_4 6494866)_(47060985 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 46,494,866 | 47,060,985 | ||
| nssv15147477 | Submitted genomic | NC_000010.9:g.(?_4 6494866)_(47125064 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 46,494,866 | 47,125,064 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145648 | GRCh37: NC_000010.10:g.(?_47006954)_(47531169_?)del, GRCh38: NC_000010.11:g.(?_46157935)_(47923579_?)del, NCBI36: NC_000010.9:g.(?_46404919)_(47017657_?)del | copy number loss | not provided | See cases | Benign | ClinVar | RCV000050303.5, VCV000161043.1 | 1 |
| nssv15145829 | GRCh37: NC_000010.10:g.(?_47006954)_(47702558_?)dup, GRCh38: NC_000010.11:g.(?_46157935)_(47923579_?)dup, NCBI36: NC_000010.9:g.(?_46371268)_(47172564_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000136435.5, VCV000147214.2 | 3 |
| nssv15145854 | GRCh37: NC_000010.10:g.(?_47006954)_(47768522_?)dup, GRCh38: NC_000010.11:g.(?_46157935)_(47923579_?)dup, NCBI36: NC_000010.9:g.(?_46369261)_(47238528_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000137211.5, VCV000148133.2 | 3 |
| nssv15145916 | GRCh37: NC_000010.10:g.(?_47006954)_(47531169_?)dup, GRCh38: NC_000010.11:g.(?_46157935)_(47923579_?)dup, NCBI36: NC_000010.9:g.(?_46371235)_(47060985_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000138910.5, VCV000149982.2 | 3 |
| nssv15146048 | GRCh37: NC_000010.10:g.(?_47006954)_(47531169_?)dup, GRCh38: NC_000010.11:g.(?_46157935)_(47923579_?)dup, NCBI36: NC_000010.9:g.(?_46404919)_(47018978_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000142931.5, VCV000154864.2 | 3 |
| nssv15146162 | GRCh37: NC_000010.10:g.(?_46984913)_(47655146_?)del, GRCh38: NC_000010.11:g.(?_46157935)_(47923579_?)del, NCBI36: NC_000010.9:g.(?_46404919)_(47125152_?)del | copy number loss | not provided | See cases | Benign | ClinVar | RCV000050260.9, VCV000031951.2 | 1 |
| nssv15146167 | GRCh37: NC_000010.10:g.(?_47006954)_(47531169_?)dup, GRCh38: NC_000010.11:g.(?_46157935)_(47923579_?)dup, NCBI36: NC_000010.9:g.(?_46404919)_(47017657_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000050301.9, VCV000032820.2 | 3 |
| nssv15146191 | GRCh37: NC_000010.10:g.(?_47074802)_(47531169_?)dup, GRCh38: NC_000010.11:g.(?_46157935)_(47923579_?)dup, NCBI36: NC_000010.9:g.(?_46494808)_(47125152_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000050741.8, VCV000032321.2 | 3 |
| nssv15146308 | GRCh37: NC_000010.10:g.(?_47006954)_(47531169_?)dup, GRCh38: NC_000010.11:g.(?_46157935)_(47923579_?)dup, NCBI36: NC_000010.9:g.(?_46404919)_(47125152_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000050252.9, VCV000032317.2 | 3 |
| nssv15146309 | GRCh37: NC_000010.10:g.(?_47033385)_(47531169_?)dup, GRCh38: NC_000010.11:g.(?_46157935)_(47923579_?)dup, NCBI36: NC_000010.9:g.(?_46453391)_(47125152_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000050288.8, VCV000033676.2 | 3 |
| nssv15146647 | GRCh37: NC_000010.10:g.(?_47006954)_(47531169_?)dup, GRCh38: NC_000010.11:g.(?_46157935)_(47923579_?)dup, NCBI36: NC_000010.9:g.(?_46371235)_(47125064_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000134826.5, VCV000145457.2 | 3 |
| nssv15146686 | GRCh37: NC_000010.10:g.(?_47006954)_(47531169_?)dup, GRCh38: NC_000010.11:g.(?_46157935)_(47923579_?)dup, NCBI36: NC_000010.9:g.(?_46404919)_(47060985_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000136044.5, VCV000146805.2 | 3 |
| nssv15146810 | GRCh37: NC_000010.10:g.(?_47006954)_(47531169_?)dup, GRCh38: NC_000010.11:g.(?_46157935)_(47923579_?)dup, NCBI36: NC_000010.9:g.(?_46404919)_(47125152_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000148181.5, VCV000160950.1 | 3 |
| nssv15146811 | GRCh38: NC_000010.11:g.(?_46157935)_(47923579_?)del, NCBI36: NC_000010.9:g.(?_46404919)_(47125152_?)del | copy number loss | see ClinVar for details | See cases | Benign | ClinVar | RCV000148189.4, VCV000160959.1 | 1 |
| nssv15146814 | GRCh37: NC_000010.10:g.(?_47074802)_(47531169_?)dup, GRCh38: NC_000010.11:g.(?_46157935)_(47923579_?)dup, NCBI36: NC_000010.9:g.(?_46494808)_(47125152_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000148240.3, VCV000161022.1 | 3 |
| nssv15147234 | GRCh38: NC_000010.11:g.(?_46157935)_(47923579_?)dup, NCBI36: NC_000010.9:g.(?_46404919)_(47735531_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000133669.5, VCV000144187.2 | 3 |
| nssv15147477 | GRCh37: NC_000010.10:g.(?_47074860)_(47531169_?)dup, GRCh38: NC_000010.11:g.(?_46157935)_(47923579_?)dup, NCBI36: NC_000010.9:g.(?_46494866)_(47125064_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000139094.5, VCV000150205.2 | 3 |
| nssv15147492 | GRCh37: NC_000010.10:g.(?_47006954)_(47531169_?)dup, GRCh38: NC_000010.11:g.(?_46157935)_(47923579_?)dup, NCBI36: NC_000010.9:g.(?_46404919)_(47125064_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000139485.5, VCV000150663.2 | 3 |
| nssv15147966 | GRCh37: NC_000010.10:g.(?_47006954)_(47531169_?)dup, GRCh38: NC_000010.11:g.(?_46157935)_(47923579_?)dup, NCBI36: NC_000010.9:g.(?_46404919)_(47061001_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000133836.5, VCV000144354.2 | 3 |
| nssv15148015 | GRCh37: NC_000010.10:g.(?_47006954)_(47768540_?)dup, GRCh38: NC_000010.11:g.(?_46157935)_(47923579_?)dup, NCBI36: NC_000010.9:g.(?_46404919)_(47238546_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000134855.5, VCV000145488.2 | 3 |
| nssv15148067 | GRCh37: NC_000010.10:g.(?_47006954)_(47531169_?)dup, GRCh38: NC_000010.11:g.(?_46157935)_(47923579_?)dup, NCBI36: NC_000010.9:g.(?_46404808)_(47125152_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000135951.5, VCV000146700.2 | 3 |
| nssv15148072 | GRCh37: NC_000010.10:g.(?_46984913)_(47590979_?)del, GRCh38: NC_000010.11:g.(?_46157935)_(47923579_?)del, NCBI36: NC_000010.9:g.(?_46404919)_(47060985_?)del | copy number loss | not provided | See cases | Benign | ClinVar | RCV000136045.5, VCV000146806.2 | 1 |
| nssv15148286 | GRCh37: NC_000010.10:g.(?_47033385)_(47531169_?)dup, GRCh38: NC_000010.11:g.(?_46157935)_(47923579_?)dup, NCBI36: NC_000010.9:g.(?_46453391)_(47125152_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000148209.3, VCV000160988.1 | 3 |
| nssv15148291 | GRCh37: NC_000010.10:g.(?_47006954)_(47531169_?)dup, GRCh38: NC_000010.11:g.(?_46157935)_(47923579_?)dup, NCBI36: NC_000010.9:g.(?_46404919)_(47017657_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000148258.3, VCV000161044.1 | 3 |
| nssv15148871 | GRCh37: NC_000010.10:g.(?_47006954)_(47768540_?)dup, GRCh38: NC_000010.11:g.(?_46157935)_(47923579_?)dup, NCBI36: NC_000010.9:g.(?_46371235)_(47238546_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000138840.5, VCV000149897.2 | 3 |
| nssv15148883 | GRCh37: NC_000010.10:g.(?_47074860)_(47531169_?)dup, GRCh38: NC_000010.11:g.(?_46157935)_(47923579_?)dup, NCBI36: NC_000010.9:g.(?_46494866)_(47060985_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000139320.5, VCV000150472.2 | 3 |
| nssv15148886 | GRCh37: NW_003871068.1:g.(?_431049)_(2010264_?)dup, GRCh38: NC_000010.11:g.(?_46157935)_(47923579_?)dup, NCBI36: NC_000010.9:g.(?_46029938)_(47744290_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000139516.5, VCV000150698.2 | 3 |
| nssv15148983 | GRCh37: NC_000010.10:g.(?_46951229)_(47768540_?)del, GRCh38: NC_000010.11:g.(?_46157935)_(47923579_?)del, NCBI36: NC_000010.9:g.(?_46371235)_(47238546_?)del | copy number loss | not provided | See cases | Benign | ClinVar | RCV000142911.5, VCV000154844.2 | 1 |