nsv6313961
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:19,987,555
- Description:GRCh37/hg19 11q14.1-22.1(chr11:77855209-98002445) AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 50935 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 50863 SVs from 133 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313961 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 78,144,163 | 98,131,717 |
| nsv6313961 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 77,855,209 | 98,002,445 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969476 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002052940.3, VCV001527654.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969476 | Remapped | Good | NC_000011.10:g.(?_ 78144163)_(9813171 7_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 78,144,163 | 98,131,717 |
| nssv17969476 | Submitted genomic | NC_000011.9:g.(?_7 7855209)_(98002445 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 77,855,209 | 98,002,445 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969476 | GRCh37: NC_000011.9:g.(?_77855209)_(98002445_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002052940.3, VCV001527654.3 |