nsv3915161
- 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:20,317,156
- Description:GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)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: 65865 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 65804 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 16661 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3915161 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 68,453 | 20,385,608 |
| nsv3915161 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 68,345 | 20,387,231 |
| nsv3915161 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 58,345 | 19,996,329 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148266 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143713.6, VCV000155646.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148266 | Submitted genomic | NC_000004.12:g.(?_ 68453)_(20385608_? )del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 68,453 | 20,385,608 |
| nssv15148266 | Submitted genomic | NC_000004.11:g.(?_ 68345)_(20387231_? )del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 68,345 | 20,387,231 |
| nssv15148266 | Submitted genomic | NC_000004.10:g.(?_ 58345)_(19996329_? )del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 58,345 | 19,996,329 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148266 | GRCh37: NC_000004.11:g.(?_68345)_(20387231_?)del, GRCh38: NC_000004.12:g.(?_68453)_(20385608_?)del, NCBI36: NC_000004.10:g.(?_58345)_(19996329_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000143713.6, VCV000155646.2 | 1 |