nsv3916332
- 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:9,110,886
- Description:GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3 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: 37981 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 37713 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 10079 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3916332 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 129,068,560 | 138,179,445 |
| nsv3916332 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 131,830,839 | 141,073,897 |
| nsv3916332 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 130,870,660 | 140,193,718 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148017 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000134916.7, VCV000145575.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148017 | Submitted genomic | NC_000009.12:g.(?_ 129068560)_(138179 445_?)dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 129,068,560 | 138,179,445 |
| nssv15148017 | Submitted genomic | NC_000009.11:g.(?_ 131830839)_(141073 897_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 131,830,839 | 141,073,897 |
| nssv15148017 | Submitted genomic | NC_000009.10:g.(?_ 130870660)_(140193 718_?)dup | NCBI36 (hg18) | NC_000009.10 | Chr9 | 130,870,660 | 140,193,718 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148017 | GRCh37: NC_000009.11:g.(?_131830839)_(141073897_?)dup, GRCh38: NC_000009.12:g.(?_129068560)_(138179445_?)dup, NCBI36: NC_000009.10:g.(?_130870660)_(140193718_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000134916.7, VCV000145575.2 | 3 |