nsv6309803
- 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:2,141,094
- Description:NC_000015.9:g.(?_72103084)_(74244178_?)del AND Tay-Sachs disease
- Publication(s):ACOG Committee on Genetics et al. 2009, Gross et al. 2008, Kaback et al. 1999
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 5107 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 5108 SVs from 106 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6309803 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 71,810,744 | 73,951,837 |
| nsv6309803 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 72,103,084 | 74,244,178 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17972340 | deletion | Multiple | Multiple | Hexosaminidase A Deficiency; TAY-SACHS DISEASE; TSD; Tay-Sachs disease; Tay-Sachs disease | Pathogenic | ClinVar | RCV001972852.1, VCV001458323.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17972340 | Remapped | Perfect | NC_000015.10:g.(?_ 71810744)_(7395183 7_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 71,810,744 | 73,951,837 |
| nssv17972340 | Submitted genomic | NC_000015.9:g.(?_7 2103084)_(74244178 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 72,103,084 | 74,244,178 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17972340 | GRCh37: NC_000015.9:g.(?_72103084)_(74244178_?)del | deletion | germline | Hexosaminidase A Deficiency; TAY-SACHS DISEASE; TSD; Tay-Sachs disease; Tay-Sachs disease | Pathogenic | ClinVar | RCV001972852.1, VCV001458323.1 |