nsv6637646
- 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:2,652,720
- Description:GRCh37/hg19 13q11-12.11(chr13:19436287-22089005)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: 10193 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 10207 SVs from 120 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637646 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 18,862,147 | 21,514,866 |
| nsv6637646 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 19,436,287 | 22,089,005 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329212 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002475689.1, VCV001809316.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329212 | Remapped | Perfect | NC_000013.11:g.(?_ 18862147)_(2151486 6_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 18,862,147 | 21,514,866 |
| nssv18329212 | Submitted genomic | NC_000013.10:g.(?_ 19436287)_(2208900 5_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 19,436,287 | 22,089,005 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18329212 | GRCh37: NC_000013.10:g.(?_19436287)_(22089005_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV002475689.1, VCV001809316.1 | 1 |