nsv4457007
- 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:8,627,360
- Description:GRCh37/hg19 6q21-22.31(chr6:110981075-119608396)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: 19571 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 19575 SVs from 121 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4457007 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 110,659,872 | 119,287,231 |
| nsv4457007 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 110,981,075 | 119,608,396 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15772968 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000848701.2, VCV000688010.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15772968 | Remapped | Perfect | NC_000006.12:g.(?_ 110659872)_(119287 231_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 110,659,872 | 119,287,231 |
| nssv15772968 | Submitted genomic | NC_000006.11:g.(?_ 110981075)_(119608 396_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 110,981,075 | 119,608,396 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15772968 | GRCh37: NC_000006.11:g.(?_110981075)_(119608396_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000848701.2, VCV000688010.2 | 1 |