nsv3922647
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:2,772,244
- Description:
See descriptions for individual calls in download files
- ClinVar: RCV000139955.4
- ClinVar: RCV000143126.5
- ClinVar: RCV000143225.5
- ClinVar: RCV000143362.4
- ClinVar: RCV000143442.4
- ClinVar: VCV000151229.2
- ClinVar: VCV000155059.2
- ClinVar: VCV000155158.2
- ClinVar: VCV000155295.2
- ClinVar: VCV000155375.2
- dbVar: nssv13638493
- dbVar: nssv13638544
- dbVar: nssv13638883
- dbVar: nssv13639280
- dbVar: nssv13639534
- dbVar: nssv13639842
- dbVar: nssv13639933
- dbVar: nssv13640905
- dbVar: nssv13642684
- dbVar: nssv13643491
- dbVar: nssv13644009
- dbVar: nssv13644062
- dbVar: nssv13644378
- dbVar: nssv13644437
- dbVar: nssv13644680
- dbVar: nssv13645882
- dbVar: nssv13646576
- dbVar: nssv13646745
- dbVar: nssv13646764
- dbVar: nssv13646864
- dbVar: nssv13646956
- dbVar: nssv13647137
- dbVar: nssv13648248
- dbVar: nssv13650086
- dbVar: nssv13650561
- dbVar: nssv13650678
- dbVar: nssv13651139
- dbVar: nssv13651442
- dbVar: nssv13651639
- dbVar: nssv13651666
- dbVar: nssv13652042
- dbVar: nssv13652053
- dbVar: nssv13653330
- dbVar: nssv13654340
- dbVar: nssv14081957
- dbVar: nssv14082178
- dbVar: nssv14082211
- dbVar: nssv14082356
- dbVar: nssv14082404
- dbVar: nssv14082414
- dbVar: nssv14082439
- dbVar: nssv1608289
- dbVar: nssv1610271
- dbVar: nssv3395061
- dbVar: nssv3395106
- dbVar: nssv3395289
- dbVar: nssv3395291
- dbVar: nssv3395316
- dbVar: nssv3395421
- dbVar: nssv3395442
- dbVar: nssv3396703
- dbVar: nssv3396759
- dbVar: nssv3396779
- dbVar: nssv3396870
- dbVar: nssv3396940
- dbVar: nssv3396952
- dbVar: nssv3397018
- dbVar: nssv3397020
- dbVar: nssv3397082
- dbVar: nssv3397087
- dbVar: nssv3397223
- dbVar: nssv3397229
- dbVar: nssv3397302
- dbVar: nssv3397352
- dbVar: nsv931114
- dbVar: nsv932076
- dbVar: nsv995156
- dbVar: nsv995379
- 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: 9929 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 8993 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 2717 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 |
|---|---|---|---|---|---|---|---|
| nsv3922647 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 18,339,130 | 21,111,373 |
| nsv3922647 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 18,970,561 | 21,465,662 |
| nsv3922647 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000022.9 | Chr22 | 17,350,561 | 19,795,662 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137698 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000139955.4, VCV000151229.2 | 3 |
| nssv15138712 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143126.5, VCV000155059.2 | 1 |
| nssv15139269 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143362.4, VCV000155295.2 | 1 |
| nssv15139289 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143442.4, VCV000155375.2 | 1 |
| nssv15139854 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143225.5, VCV000155158.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137698 | Submitted genomic | NC_000022.11:g.(?_ 18339130)_(2111137 3_?)dup | GRCh38 (hg38) | NC_000022.11 | Chr22 | 18,339,130 | 21,111,373 |
| nssv15138712 | Submitted genomic | NC_000022.11:g.(?_ 18339130)_(2111137 3_?)del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 18,339,130 | 21,111,373 |
| nssv15139269 | Submitted genomic | NC_000022.11:g.(?_ 18339130)_(2111137 3_?)del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 18,339,130 | 21,111,373 |
| nssv15139289 | Submitted genomic | NC_000022.11:g.(?_ 18339130)_(2111137 3_?)del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 18,339,130 | 21,111,373 |
| nssv15139854 | Submitted genomic | NC_000022.11:g.(?_ 18339130)_(2111137 3_?)del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 18,339,130 | 21,111,373 |
| nssv15139269 | Submitted genomic | NC_000022.10:g.(?_ 18916827)_(2146566 2_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 18,916,827 | 21,465,662 |
| nssv15137698 | Submitted genomic | NC_000022.10:g.(?_ 18916828)_(2146566 2_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 18,916,828 | 21,465,662 |
| nssv15138712 | Submitted genomic | NC_000022.10:g.(?_ 18916828)_(2146566 2_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 18,916,828 | 21,465,662 |
| nssv15139854 | Submitted genomic | NC_000022.10:g.(?_ 18916842)_(2146566 2_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 18,916,842 | 21,465,662 |
| nssv15139289 | Submitted genomic | NC_000022.10:g.(?_ 18970561)_(2146566 2_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 18,970,561 | 21,465,662 |
| nssv15139269 | Submitted genomic | NC_000022.9:g.(?_1 7296827)_(19795662 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 17,296,827 | 19,795,662 |
| nssv15138712 | Submitted genomic | NC_000022.9:g.(?_1 7296828)_(19795662 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 17,296,828 | 19,795,662 |
| nssv15139854 | Submitted genomic | NC_000022.9:g.(?_1 7296842)_(19795662 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 17,296,842 | 19,795,662 |
| nssv15139289 | Submitted genomic | NC_000022.9:g.(?_1 7350561)_(19795662 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 17,350,561 | 19,795,662 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137698 | GRCh37: NC_000022.10:g.(?_18916828)_(21465662_?)dup, GRCh38: NC_000022.11:g.(?_18339130)_(21111373_?)dup | copy number gain | see ClinVar for details | See cases | Pathogenic | ClinVar | RCV000139955.4, VCV000151229.2 | 3 |
| nssv15138712 | GRCh37: NC_000022.10:g.(?_18916828)_(21465662_?)del, GRCh38: NC_000022.11:g.(?_18339130)_(21111373_?)del, NCBI36: NC_000022.9:g.(?_17296828)_(19795662_?)del | copy number loss | see ClinVar for details | See cases | Pathogenic | ClinVar | RCV000143126.5, VCV000155059.2 | 1 |
| nssv15139269 | GRCh37: NC_000022.10:g.(?_18916827)_(21465662_?)del, GRCh38: NC_000022.11:g.(?_18339130)_(21111373_?)del, NCBI36: NC_000022.9:g.(?_17296827)_(19795662_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000143362.4, VCV000155295.2 | 1 |
| nssv15139289 | GRCh37: NC_000022.10:g.(?_18970561)_(21465662_?)del, GRCh38: NC_000022.11:g.(?_18339130)_(21111373_?)del, NCBI36: NC_000022.9:g.(?_17350561)_(19795662_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000143442.4, VCV000155375.2 | 1 |
| nssv15139854 | GRCh37: NC_000022.10:g.(?_18916842)_(21465662_?)del, GRCh38: NC_000022.11:g.(?_18339130)_(21111373_?)del, NCBI36: NC_000022.9:g.(?_17296842)_(19795662_?)del | copy number loss | see ClinVar for details | See cases | Pathogenic | ClinVar | RCV000143225.5, VCV000155158.2 | 1 |