nsv7094786
- 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:1,024,194
- Description:NC_000015.9:g.(?_72636418)_(73660611_?)dup 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: 2335 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 2335 SVs from 92 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7094786 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 72,344,077 | 73,368,270 |
| nsv7094786 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 72,636,418 | 73,660,611 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18789303 | duplication | Multiple | Multiple | Hexosaminidase A Deficiency; TAY-SACHS DISEASE; TSD; Tay-Sachs disease; Tay-Sachs disease | Uncertain significance | ClinVar | RCV003111340.2, VCV002423198.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18789303 | Remapped | Perfect | NC_000015.10:g.(?_ 72344077)_(7336827 0_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 72,344,077 | 73,368,270 |
| nssv18789303 | Submitted genomic | NC_000015.9:g.(?_7 2636418)_(73660611 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 72,636,418 | 73,660,611 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18789303 | GRCh37: NC_000015.9:g.(?_72636418)_(73660611_?)dup | duplication | germline | Hexosaminidase A Deficiency; TAY-SACHS DISEASE; TSD; Tay-Sachs disease; Tay-Sachs disease | Uncertain significance | ClinVar | RCV003111340.2, VCV002423198.2 |