nsv4729472
- 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:255,498
- Description:GRCh37/hg19 6p22.2(chr6:26345595-26601092)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: 882 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 882 SVs from 75 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729472 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 26,345,367 | 26,600,864 |
| nsv4729472 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 26,345,595 | 26,601,092 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16253991 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001258731.1, VCV000979555.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16253991 | Remapped | Perfect | NC_000006.12:g.(?_ 26345367)_(2660086 4_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 26,345,367 | 26,600,864 |
| nssv16253991 | Submitted genomic | NC_000006.11:g.(?_ 26345595)_(2660109 2_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 26,345,595 | 26,601,092 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16253991 | GRCh37: NC_000006.11:g.(?_26345595)_(26601092_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001258731.1, VCV000979555.1 | 3 |