nsv3922633
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:15,872,986
- Description:GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)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: 40792 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 40792 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 9987 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922633 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 99,138,048 | 115,011,033 |
| nsv3922633 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 101,900,330 | 117,773,312 |
| nsv3922633 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 100,940,151 | 116,813,133 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146168 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000050315.8, VCV000032222.2 | 1 |
| nssv15146817 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000148264.3, VCV000161058.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146168 | Submitted genomic | NC_000009.12:g.(?_ 99138048)_(1150110 33_?)del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 99,138,048 | 115,011,033 |
| nssv15146817 | Submitted genomic | NC_000009.12:g.(?_ 99138048)_(1150110 33_?)del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 99,138,048 | 115,011,033 |
| nssv15146168 | Submitted genomic | NC_000009.11:g.(?_ 101900330)_(117773 312_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 101,900,330 | 117,773,312 |
| nssv15146817 | Submitted genomic | NC_000009.11:g.(?_ 101900330)_(117773 312_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 101,900,330 | 117,773,312 |
| nssv15146168 | Submitted genomic | NC_000009.10:g.(?_ 100940151)_(116813 133_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 100,940,151 | 116,813,133 |
| nssv15146817 | Submitted genomic | NC_000009.10:g.(?_ 100940151)_(116813 133_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 100,940,151 | 116,813,133 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146168 | GRCh37: NC_000009.11:g.(?_101900330)_(117773312_?)del, GRCh38: NC_000009.12:g.(?_99138048)_(115011033_?)del, NCBI36: NC_000009.10:g.(?_100940151)_(116813133_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000050315.8, VCV000032222.2 | 1 |
| nssv15146817 | GRCh37: NC_000009.11:g.(?_101900330)_(117773312_?)del, GRCh38: NC_000009.12:g.(?_99138048)_(115011033_?)del, NCBI36: NC_000009.10:g.(?_100940151)_(116813133_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000148264.3, VCV000161058.1 | 1 |