nsv3922826
- 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:1,612,452
- Description:
See descriptions for individual calls in download files
- ClinVar: RCV000050321.9
- ClinVar: RCV000141529.5
- ClinVar: RCV000142497.5
- ClinVar: RCV000143045.5
- ClinVar: RCV000148274.4
- ClinVar: VCV000032955.2
- ClinVar: VCV000153030.2
- ClinVar: VCV000154430.2
- ClinVar: VCV000154978.2
- ClinVar: VCV000161068.1
- dbVar: nssv1602405
- dbVar: nssv1602879
- dbVar: nssv1603572
- dbVar: nssv1603680
- dbVar: nssv1603832
- dbVar: nssv1604434
- dbVar: nssv1604457
- dbVar: nssv1604688
- dbVar: nssv3395673
- dbVar: nssv3396643
- dbVar: nssv575451
- dbVar: nssv579509
- dbVar: nssv579531
- dbVar: nssv579553
- dbVar: nssv584279
- dbVar: nssv584289
- dbVar: nssv584297
- dbVar: nssv706928
- dbVar: nssv707074
- dbVar: nsv1067782
- dbVar: nsv491699
- dbVar: nsv497960
- dbVar: nsv917094
- dbVar: nsv995022
- 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: 5810 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 2502 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 2359 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 |
|---|---|---|---|---|---|---|---|
| nsv3922826 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 46,375,049 | 47,987,500 |
| nsv3922826 | Submitted genomic | GRCh37.p13 | PATCHES | NW_003871068.1 | Chr10|NW_0 03871068.1 | 813,779 | 1,904,769 |
| nsv3922826 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 46,404,919 | 47,735,531 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146024 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000142497.5, VCV000154430.2 | 3 |
| nssv15146310 | copy number loss | Multiple | Multiple | See cases | Benign | ClinVar | RCV000050321.9, VCV000032955.2 | 1 |
| nssv15146818 | copy number loss | Multiple | Multiple | See cases | Benign | ClinVar | RCV000148274.4, VCV000161068.1 | 1 |
| nssv15148166 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000141529.5, VCV000153030.2 | 3 |
| nssv15148990 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000143045.5, VCV000154978.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146024 | Submitted genomic | NC_000010.11:g.(?_ 46375049)_(4798750 0_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 46,375,049 | 47,987,500 |
| nssv15146310 | Submitted genomic | NC_000010.11:g.(?_ 46375049)_(4798750 0_?)del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 46,375,049 | 47,987,500 |
| nssv15146818 | Submitted genomic | NC_000010.11:g.(?_ 46375049)_(4798750 0_?)del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 46,375,049 | 47,987,500 |
| nssv15148166 | Submitted genomic | NC_000010.11:g.(?_ 46375049)_(4798750 0_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 46,375,049 | 47,987,500 |
| nssv15148990 | Submitted genomic | NC_000010.11:g.(?_ 46375049)_(4798750 0_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 46,375,049 | 47,987,500 |
| nssv15146024 | Submitted genomic | NW_003871068.1:g.( ?_431049)_(2010264 _?)dup | GRCh37.p13 | NW_003871068.1 | Chr10|NW_0 03871068.1 | 431,049 | 2,010,264 |
| nssv15146310 | Submitted genomic | NW_003871068.1:g.( ?_813779)_(1904769 _?)del | GRCh37.p13 | NW_003871068.1 | Chr10|NW_0 03871068.1 | 813,779 | 1,904,769 |
| nssv15146818 | Submitted genomic | NW_003871068.1:g.( ?_813779)_(1904769 _?)del | GRCh37.p13 | NW_003871068.1 | Chr10|NW_0 03871068.1 | 813,779 | 1,904,769 |
| nssv15148166 | Submitted genomic | NC_000010.10:g.(?_ 46949255)_(4836495 4_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 46,949,255 | 48,364,954 |
| nssv15148990 | Submitted genomic | NC_000010.10:g.(?_ 47006954)_(4792985 6_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,006,954 | 47,929,856 |
| nssv15148166 | Submitted genomic | NC_000010.9:g.(?_4 6369261)_(47984960 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 46,369,261 | 47,984,960 |
| nssv15148990 | Submitted genomic | NC_000010.9:g.(?_4 6371235)_(47449862 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 46,371,235 | 47,449,862 |
| nssv15146024 | Submitted genomic | NC_000010.9:g.(?_4 6371235)_(47744290 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 46,371,235 | 47,744,290 |
| nssv15146310 | Submitted genomic | NC_000010.9:g.(?_4 6404919)_(47735531 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 46,404,919 | 47,735,531 |
| nssv15146818 | Submitted genomic | NC_000010.9:g.(?_4 6404919)_(47735531 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 46,404,919 | 47,735,531 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146024 | GRCh37: NW_003871068.1:g.(?_431049)_(2010264_?)dup, GRCh38: NC_000010.11:g.(?_46375049)_(47987500_?)dup, NCBI36: NC_000010.9:g.(?_46371235)_(47744290_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000142497.5, VCV000154430.2 | 3 |
| nssv15146310 | GRCh37: NW_003871068.1:g.(?_813779)_(1904769_?)del, GRCh38: NC_000010.11:g.(?_46375049)_(47987500_?)del, NCBI36: NC_000010.9:g.(?_46404919)_(47735531_?)del | copy number loss | not provided | See cases | Benign | ClinVar | RCV000050321.9, VCV000032955.2 | 1 |
| nssv15146818 | GRCh37: NW_003871068.1:g.(?_813779)_(1904769_?)del, GRCh38: NC_000010.11:g.(?_46375049)_(47987500_?)del, NCBI36: NC_000010.9:g.(?_46404919)_(47735531_?)del | copy number loss | not provided | See cases | Benign | ClinVar | RCV000148274.4, VCV000161068.1 | 1 |
| nssv15148166 | GRCh37: NC_000010.10:g.(?_46949255)_(48364954_?)dup, GRCh38: NC_000010.11:g.(?_46375049)_(47987500_?)dup, NCBI36: NC_000010.9:g.(?_46369261)_(47984960_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000141529.5, VCV000153030.2 | 3 |
| nssv15148990 | GRCh37: NC_000010.10:g.(?_47006954)_(47929856_?)dup, GRCh38: NC_000010.11:g.(?_46375049)_(47987500_?)dup, NCBI36: NC_000010.9:g.(?_46371235)_(47449862_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000143045.5, VCV000154978.2 | 3 |