nsv3905582
- 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:17,115,208
- Description:GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)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: 40365 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 40366 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 11117 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 |
|---|---|---|---|---|---|---|---|
| nsv3905582 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 176,086,763 | 193,201,970 |
| nsv3905582 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 176,951,491 | 194,066,696 |
| nsv3905582 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 176,659,737 | 193,774,941 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138862 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143484.5, VCV000155417.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15138862 | Submitted genomic | NC_000002.12:g.(?_ 176086763)_(193201 970_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 176,086,763 | 193,201,970 |
| nssv15138862 | Submitted genomic | NC_000002.11:g.(?_ 176951491)_(194066 696_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 176,951,491 | 194,066,696 |
| nssv15138862 | Submitted genomic | NC_000002.10:g.(?_ 176659737)_(193774 941_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 176,659,737 | 193,774,941 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15138862 | GRCh37: NC_000002.11:g.(?_176951491)_(194066696_?)del, GRCh38: NC_000002.12:g.(?_176086763)_(193201970_?)del, NCBI36: NC_000002.10:g.(?_176659737)_(193774941_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000143484.5, VCV000155417.2 | 1 |