nsv3911862
- 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:10,435,631
- Description:GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)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: 27101 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 27101 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 6614 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3911862 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 107,530,314 | 117,965,944 |
| nsv3911862 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 110,292,595 | 120,728,222 |
| nsv3911862 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 109,332,416 | 119,768,043 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148148 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000140794.5, VCV000152171.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148148 | Submitted genomic | NC_000009.12:g.(?_ 107530314)_(117965 944_?)del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 107,530,314 | 117,965,944 |
| nssv15148148 | Submitted genomic | NC_000009.11:g.(?_ 110292595)_(120728 222_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 110,292,595 | 120,728,222 |
| nssv15148148 | Submitted genomic | NC_000009.10:g.(?_ 109332416)_(119768 043_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 109,332,416 | 119,768,043 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148148 | GRCh37: NC_000009.11:g.(?_110292595)_(120728222_?)del, GRCh38: NC_000009.12:g.(?_107530314)_(117965944_?)del, NCBI36: NC_000009.10:g.(?_109332416)_(119768043_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000140794.5, VCV000152171.2 | 1 |