nsv4456916
- 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:193,817
- Description:GRCh37/hg19 6q21(chr6:107573260-107767076)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: 505 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 505 SVs from 54 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4456916 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 107,252,056 | 107,445,872 |
| nsv4456916 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 107,573,260 | 107,767,076 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15774892 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000846542.2, VCV000685834.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15774892 | Remapped | Perfect | NC_000006.12:g.(?_ 107252056)_(107445 872_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 107,252,056 | 107,445,872 |
| nssv15774892 | Submitted genomic | NC_000006.11:g.(?_ 107573260)_(107767 076_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 107,573,260 | 107,767,076 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15774892 | GRCh37: NC_000006.11:g.(?_107573260)_(107767076_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000846542.2, VCV000685834.2 | 1 |