nsv3922615
- 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:5,422,214
- Description:GRCh38/hg38 9q22.31-22.33(chr9:91596533-97018746)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: 12936 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 12936 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 3174 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922615 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 91,596,533 | 97,018,746 |
| nsv3922615 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 94,358,815 | 99,781,028 |
| nsv3922615 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 93,398,636 | 98,820,849 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145774 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052916.7, VCV000059118.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15145774 | Submitted genomic | NC_000009.12:g.(?_ 91596533)_(9701874 6_?)del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 91,596,533 | 97,018,746 |
| nssv15145774 | Submitted genomic | NC_000009.11:g.(?_ 94358815)_(9978102 8_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 94,358,815 | 99,781,028 |
| nssv15145774 | Submitted genomic | NC_000009.10:g.(?_ 93398636)_(9882084 9_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 93,398,636 | 98,820,849 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15145774 | GRCh37: NC_000009.11:g.(?_94358815)_(99781028_?)del, GRCh38: NC_000009.12:g.(?_91596533)_(97018746_?)del, NCBI36: NC_000009.10:g.(?_93398636)_(98820849_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000052916.7, VCV000059118.1 | 1 |