nsv3924611
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:380,255
- Description:
See descriptions for individual calls in download files
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1549 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 1549 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 594 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924611 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 31,772,797 | 32,153,051 |
| nsv3924611 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 32,065,000 | 32,445,252 |
| nsv3924611 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000015.8 | Chr15 | 29,852,292 | 30,232,544 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15135744 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000137950.4, VCV000148887.2 | 1 |
| nssv15135745 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000137951.4, VCV000148888.2 | 0 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15135744 | Submitted genomic | NC_000015.10:g.(?_ 31772797)_(3215305 1_?)del | GRCh38 (hg38) | NC_000015.10 | Chr15 | 31,772,797 | 32,153,051 |
| nssv15135745 | Submitted genomic | NC_000015.10:g.(?_ 31772797)_(3215305 1_?)del | GRCh38 (hg38) | NC_000015.10 | Chr15 | 31,772,797 | 32,153,051 |
| nssv15135744 | Submitted genomic | NC_000015.9:g.(?_3 2065000)_(32445252 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 32,065,000 | 32,445,252 |
| nssv15135745 | Submitted genomic | NC_000015.9:g.(?_3 2065000)_(32445252 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 32,065,000 | 32,445,252 |
| nssv15135744 | Submitted genomic | NC_000015.8:g.(?_2 9852292)_(30232544 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 29,852,292 | 30,232,544 |
| nssv15135745 | Submitted genomic | NC_000015.8:g.(?_2 9852292)_(30232544 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 29,852,292 | 30,232,544 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15135744 | GRCh37: NC_000015.9:g.(?_32065000)_(32445252_?)del, GRCh38: NC_000015.10:g.(?_31772797)_(32153051_?)del, NCBI36: NC_000015.8:g.(?_29852292)_(30232544_?)del | copy number loss | paternal | See cases | Pathogenic | ClinVar | RCV000137950.4, VCV000148887.2 | 1 |
| nssv15135745 | GRCh37: NC_000015.9:g.(?_32065000)_(32445252_?)del, GRCh38: NC_000015.10:g.(?_31772797)_(32153051_?)del, NCBI36: NC_000015.8:g.(?_29852292)_(30232544_?)del | copy number loss | biparental | See cases | Pathogenic | ClinVar | RCV000137951.4, VCV000148888.2 | 0 |