nsv3915967
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:7,598,023
- Description:GRCh38/hg38 15q13.3-15.1(chr15:32635803-40233825)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 20222 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 20222 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 6173 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3915967 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 32,635,803 | 40,233,825 |
| nsv3915967 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 32,928,004 | 40,526,026 |
| nsv3915967 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000015.8 | Chr15 | 30,715,296 | 38,313,318 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146268 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051617.5, VCV000057877.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146268 | Submitted genomic | NC_000015.10:g.(?_ 32635803)_(4023382 5_?)del | GRCh38 (hg38) | NC_000015.10 | Chr15 | 32,635,803 | 40,233,825 |
| nssv15146268 | Submitted genomic | NC_000015.9:g.(?_3 2928004)_(40526026 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 32,928,004 | 40,526,026 |
| nssv15146268 | Submitted genomic | NC_000015.8:g.(?_3 0715296)_(38313318 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 30,715,296 | 38,313,318 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146268 | GRCh37: NC_000015.9:g.(?_32928004)_(40526026_?)del, GRCh38: NC_000015.10:g.(?_32635803)_(40233825_?)del, NCBI36: NC_000015.8:g.(?_30715296)_(38313318_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000051617.5, VCV000057877.1 | 1 |