nsv6313700
- 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:5,828,492
- Description:GRCh37/hg19 1q42.12-42.2(chr1:226131690-231908227) 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: 14979 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 14980 SVs from 124 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313700 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 225,943,990 | 231,772,481 |
| nsv6313700 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 226,131,690 | 231,908,227 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969414 | copy number loss | Multiple | Multiple | not specified | Likely pathogenic | ClinVar | RCV002052878.3, VCV001527592.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969414 | Remapped | Good | NC_000001.11:g.(?_ 225943990)_(231772 481_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 225,943,990 | 231,772,481 |
| nssv17969414 | Submitted genomic | NC_000001.10:g.(?_ 226131690)_(231908 227_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 226,131,690 | 231,908,227 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969414 | GRCh37: NC_000001.10:g.(?_226131690)_(231908227_?)del | copy number loss | germline | not specified | Likely pathogenic | ClinVar | RCV002052878.3, VCV001527592.3 |