nsv4729645
- 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:4,940,407
- Description:GRCh37/hg19 6q27(chr6:166083476-170919482)x3 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: 22874 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 22128 SVs from 128 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729645 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 165,669,988 | 170,610,394 |
| nsv4729645 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 166,083,476 | 170,919,482 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16254008 | copy number gain | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV001258773.1, VCV000979597.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16254008 | Remapped | Good | NC_000006.12:g.(?_ 165669988)_(170610 394_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 165,669,988 | 170,610,394 |
| nssv16254008 | Submitted genomic | NC_000006.11:g.(?_ 166083476)_(170919 482_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 166,083,476 | 170,919,482 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16254008 | GRCh37: NC_000006.11:g.(?_166083476)_(170919482_?)dup | copy number gain | germline | not provided | Likely pathogenic | ClinVar | RCV001258773.1, VCV000979597.1 | 3 |