nsv3898603
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:49,260,740
- Description:GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698) AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 131182 SVs from 142 studies. See in: genome view
Overlapping variant regions from other studies: 131246 SVs from 142 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3898603 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 41,883,705 | 91,144,444 |
| nsv3898603 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 42,457,841 | 91,796,698 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969593 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053057.3, VCV001527771.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969593 | Remapped | Good | NC_000013.11:g.(?_ 41883705)_(9114444 4_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 41,883,705 | 91,144,444 |
| nssv17969593 | Submitted genomic | NC_000013.10:g.(?_ 42457841)_(9179669 8_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 42,457,841 | 91,796,698 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969593 | GRCh37: NC_000013.10:g.(?_42457841)_(91796698_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002053057.3, VCV001527771.3 |