nsv6314749
- 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:20,568,743
- Description:GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)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: 46906 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 46544 SVs from 132 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6314749 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 43,668,571 | 64,237,313 |
| nsv6314749 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 43,636,308 | 64,947,206 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17976065 | copy number gain | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV002221457.2, VCV001676306.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976065 | Remapped | Good | NC_000006.12:g.(43 668571_?)_(?_64237 313)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 43,668,571 | 64,237,313 |
| nssv17976065 | Submitted genomic | NC_000006.11:g.(43 636308_?)_(?_64947 206)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 43,636,308 | 64,947,206 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17976065 | GRCh37: NC_000006.11:g.(43636308_?)_(?_64947206)dup | copy number gain | unknown | not provided | Likely pathogenic | ClinVar | RCV002221457.2, VCV001676306.2 | 3 |