nsv3894332
- 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:3,973,983
- Description:GRCh37/hg19 7p22.3-22.1(chr7:1201674-5175651)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 17668 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 17668 SVs from 124 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3894332 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 1,162,038 | 5,136,020 |
| nsv3894332 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 1,201,674 | 5,175,651 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15152120 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000512351.2, VCV000443024.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15152120 | Remapped | Perfect | NC_000007.14:g.(?_ 1162038)_(5136020_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 1,162,038 | 5,136,020 |
| nssv15152120 | Submitted genomic | NC_000007.13:g.(?_ 1201674)_(5175651_ ?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 1,201,674 | 5,175,651 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15152120 | GRCh37: NC_000007.13:g.(?_1201674)_(5175651_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000512351.2, VCV000443024.2 | 1 |