nsv3922551
- 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:13,634,540
- Description:GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)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: 32739 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 32739 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 8063 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 |
|---|---|---|---|---|---|---|---|
| nsv3922551 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 95,061,030 | 108,695,569 |
| nsv3922551 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 97,823,312 | 111,457,849 |
| nsv3922551 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 96,863,133 | 110,497,670 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15120788 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000134375.4, VCV000144971.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15120788 | Submitted genomic | NC_000009.12:g.(?_ 95061030)_(1086955 69_?)del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 95,061,030 | 108,695,569 |
| nssv15120788 | Submitted genomic | NC_000009.11:g.(?_ 97823312)_(1114578 49_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 97,823,312 | 111,457,849 |
| nssv15120788 | Submitted genomic | NC_000009.10:g.(?_ 96863133)_(1104976 70_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 96,863,133 | 110,497,670 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15120788 | GRCh37: NC_000009.11:g.(?_97823312)_(111457849_?)del, GRCh38: NC_000009.12:g.(?_95061030)_(108695569_?)del, NCBI36: NC_000009.10:g.(?_96863133)_(110497670_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000134375.4, VCV000144971.1 | 1 |