nsv4729341
- 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:623,628
- Description:GRCh37/hg19 6p22.2(chr6:26046566-26670193)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: 1848 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 1842 SVs from 95 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729341 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 26,046,338 | 26,669,965 |
| nsv4729341 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 26,046,566 | 26,670,193 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16254057 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001258882.1, VCV000979706.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16254057 | Remapped | Perfect | NC_000006.12:g.(?_ 26046338)_(2666996 5_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 26,046,338 | 26,669,965 |
| nssv16254057 | Submitted genomic | NC_000006.11:g.(?_ 26046566)_(2667019 3_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 26,046,566 | 26,670,193 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16254057 | GRCh37: NC_000006.11:g.(?_26046566)_(26670193_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001258882.1, VCV000979706.1 | 3 |