nsv6315405
- 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:97,394,170
- Description:GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) AND Distal tetrasomy 15q
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 196359 SVs from 144 studies. See in: genome view
Overlapping variant regions from other studies: 196651 SVs from 144 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6315405 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 19,356,863 | 116,751,032 |
| nsv6315405 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 19,356,861 | 119,513,311 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17976841 | copy number loss | Multiple | Multiple | 15q overgrowth syndrome; Distal tetrasomy 15q; Distal tetrasomy 15q; TETRASOMY 15q26 | Uncertain significance | ClinVar | RCV002280776.1, VCV001703688.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976841 | Remapped | Good | NC_000009.12:g.(?_ 19356863)_(1167510 32_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 19,356,863 | 116,751,032 |
| nssv17976841 | Submitted genomic | NC_000009.11:g.(?_ 19356861)_(1195133 11_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 19,356,861 | 119,513,311 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17976841 | GRCh37: NC_000009.11:g.(?_19356861)_(119513311_?)del | copy number loss | unknown | 15q overgrowth syndrome; Distal tetrasomy 15q; Distal tetrasomy 15q; TETRASOMY 15q26 | Uncertain significance | ClinVar | RCV002280776.1, VCV001703688.1 |