nsv4728260
- 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:7,516,399
- Description:Single allele 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: 19096 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 19098 SVs from 126 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728260 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 79,825,545 | 87,341,943 |
| nsv4728260 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 81,585,301 | 89,101,700 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16254684 | deletion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001260503.1, VCV000981172.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16254684 | Remapped | Perfect | NC_000010.11:g.798 25545_87341943del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 79,825,545 | 87,341,943 |
| nssv16254684 | Submitted genomic | NC_000010.10:g.815 85301_89101700del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 81,585,301 | 89,101,700 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16254684 | GRCh37: NC_000010.10:g.81585301_89101700del | deletion | germline | not provided | Pathogenic | ClinVar | RCV001260503.1, VCV000981172.1 |