nsv7097362
- 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:1,266,127
- Description:
NC_000007.13:g.(?_193200)_(1498962_?)del 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: 9898 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 9890 SVs from 107 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7097362 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 193,200 | 1,459,326 |
| nsv7097362 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 193,200 | 1,498,962 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18787050 | deletion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV003119969.2, VCV002426527.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18787050 | Remapped | Good | NC_000007.14:g.(?_ 193200)_(1459326_? )del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 193,200 | 1,459,326 |
| nssv18787050 | Submitted genomic | NC_000007.13:g.(?_ 193200)_(1498962_? )del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 193,200 | 1,498,962 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18787050 | GRCh37: NC_000007.13:g.(?_193200)_(1498962_?)del | deletion | germline | not provided | Pathogenic | ClinVar | RCV003119969.2, VCV002426527.2 |