nsv6313714
- 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:2,485,390
- Description:GRCh37/hg19 6q24.2-24.3(chr6:143331663-145817051) AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 5202 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 5202 SVs from 98 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313714 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 143,010,526 | 145,495,915 |
| nsv6313714 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 143,331,663 | 145,817,051 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17970159 | copy number gain | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053631.3, VCV001527299.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17970159 | Remapped | Perfect | NC_000006.12:g.(?_ 143010526)_(145495 915_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 143,010,526 | 145,495,915 |
| nssv17970159 | Submitted genomic | NC_000006.11:g.(?_ 143331663)_(145817 051_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 143,331,663 | 145,817,051 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17970159 | GRCh37: NC_000006.11:g.(?_143331663)_(145817051_?)dup | copy number gain | germline | not specified | Pathogenic | ClinVar | RCV002053631.3, VCV001527299.3 |