nsv6313685
- 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:974,674
- Description:GRCh37/hg19 6q23.1-23.2(chr6:130949600-131924268) 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: 2376 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 2376 SVs from 82 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313685 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 130,628,455 | 131,603,128 |
| nsv6313685 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 130,949,600 | 131,924,268 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17970150 | copy number gain | Multiple | Multiple | not specified | Uncertain significance | ClinVar | RCV002053622.3, VCV001527290.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17970150 | Remapped | Good | NC_000006.12:g.(?_ 130628455)_(131603 128_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 130,628,455 | 131,603,128 |
| nssv17970150 | Submitted genomic | NC_000006.11:g.(?_ 130949600)_(131924 268_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 130,949,600 | 131,924,268 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17970150 | GRCh37: NC_000006.11:g.(?_130949600)_(131924268_?)dup | copy number gain | germline | not specified | Uncertain significance | ClinVar | RCV002053622.3, VCV001527290.3 |