nsv4729484
- 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:7,795,678
- Description:GRCh37/hg19 10q22.3-23.2(chr10:81457752-89253430)x1 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: 19749 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 19822 SVs from 128 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729484 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 79,697,996 | 87,493,673 |
| nsv4729484 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 81,457,752 | 89,253,430 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16254802 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001258451.1, VCV000979275.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16254802 | Remapped | Perfect | NC_000010.11:g.(?_ 79697996)_(8749367 3_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 79,697,996 | 87,493,673 |
| nssv16254802 | Submitted genomic | NC_000010.10:g.(?_ 81457752)_(8925343 0_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 81,457,752 | 89,253,430 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16254802 | GRCh37: NC_000010.10:g.(?_81457752)_(89253430_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001258451.1, VCV000979275.1 | 1 |