nsv6137724
- 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:6,706,345
- Description:GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1 AND 1p36.1 deletion syndrome
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 20382 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 20389 SVs from 134 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6137724 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 16,458,755 | 23,165,099 |
| nsv6137724 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 16,785,250 | 23,491,592 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17683507 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV001614471.2, VCV001228381.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17683507 | Remapped | Perfect | NC_000001.11:g.(?_ 16458755)_(2316509 9_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,458,755 | 23,165,099 |
| nssv17683507 | Submitted genomic | NC_000001.10:g.(?_ 16785250)_(2349159 2_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 16,785,250 | 23,491,592 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17683507 | GRCh37: NC_000001.10:g.(?_16785250)_(23491592_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV001614471.2, VCV001228381.2 | 1 |