nsv6314117
- 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:44,305,552
- Description:GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753) 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: 115432 SVs from 142 studies. See in: genome view
Overlapping variant regions from other studies: 115450 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6314117 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 35,802,067 | 80,107,618 |
| nsv6314117 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 36,376,204 | 80,681,753 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969588 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053052.3, VCV001527766.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969588 | Remapped | Perfect | NC_000013.11:g.(?_ 35802067)_(8010761 8_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 35,802,067 | 80,107,618 |
| nssv17969588 | Submitted genomic | NC_000013.10:g.(?_ 36376204)_(8068175 3_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 36,376,204 | 80,681,753 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969588 | GRCh37: NC_000013.10:g.(?_36376204)_(80681753_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002053052.3, VCV001527766.3 |