nsv6313574
- 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:24,551,791
- Description:GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957) 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: 57598 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 57590 SVs from 132 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313574 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 67,714,610 | 92,266,400 |
| nsv6313574 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 68,180,293 | 92,731,957 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969920 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053392.3, VCV001527060.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969920 | Remapped | Good | NC_000001.11:g.(?_ 67714610)_(9226640 0_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 67,714,610 | 92,266,400 |
| nssv17969920 | Submitted genomic | NC_000001.10:g.(?_ 68180293)_(9273195 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 68,180,293 | 92,731,957 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969920 | GRCh37: NC_000001.10:g.(?_68180293)_(92731957_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002053392.3, VCV001527060.3 |