nsv4729595
- 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:1,735,621
- Description:
GRCh37/hg19 6p25.3(chr6:152849-1888703)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: 8297 SVs from 116 studies. See in: genome view
Overlapping variant regions from other studies: 8288 SVs from 116 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729595 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 152,849 | 1,888,469 |
| nsv4729595 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 152,849 | 1,888,703 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16254736 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV001263042.1, VCV000983174.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16254736 | Remapped | Good | NC_000006.12:g.(15 2849_?)_(?_1888469 )del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 152,849 | 1,888,469 |
| nssv16254736 | Submitted genomic | NC_000006.11:g.(15 2849_?)_(?_1888703 )del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 152,849 | 1,888,703 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16254736 | GRCh37: NC_000006.11:g.(152849_?)_(?_1888703)del | copy number loss | unknown | See cases | Pathogenic | ClinVar | RCV001263042.1, VCV000983174.1 | 1 |