nsv3915859
- 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:37,183,349
- Description:GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)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: 98576 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 98594 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 27141 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3915859 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000013.11 | Chr13 | 47,117,587 | 84,300,935 |
| nsv3915859 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 47,691,722 | 84,875,070 |
| nsv3915859 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000013.9 | Chr13 | 46,589,723 | 83,773,071 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161779 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000136647.5, VCV000147464.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161779 | Submitted genomic | NC_000013.11:g.(?_ 47117587)_(8430093 5_?)del | GRCh38 (hg38) | NC_000013.11 | Chr13 | 47,117,587 | 84,300,935 |
| nssv15161779 | Submitted genomic | NC_000013.10:g.(?_ 47691722)_(8487507 0_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 47,691,722 | 84,875,070 |
| nssv15161779 | Submitted genomic | NC_000013.9:g.(?_4 6589723)_(83773071 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 46,589,723 | 83,773,071 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161779 | GRCh37: NC_000013.10:g.(?_47691722)_(84875070_?)del, GRCh38: NC_000013.11:g.(?_47117587)_(84300935_?)del, NCBI36: NC_000013.9:g.(?_46589723)_(83773071_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000136647.5, VCV000147464.2 | 1 |