nsv6637124
- 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:12,532,966
- Description:GRCh37/hg19 1q25.2-31.2(chr1:179727182-192260142)x1 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 31823 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 31827 SVs from 127 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637124 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 179,758,047 | 192,291,012 |
| nsv6637124 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 179,727,182 | 192,260,142 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330217 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002473949.1, VCV001808632.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330217 | Remapped | Perfect | NC_000001.11:g.(?_ 179758047)_(192291 012_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 179,758,047 | 192,291,012 |
| nssv18330217 | Submitted genomic | NC_000001.10:g.(?_ 179727182)_(192260 142_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 179,727,182 | 192,260,142 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330217 | GRCh37: NC_000001.10:g.(?_179727182)_(192260142_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV002473949.1, VCV001808632.1 | 1 |