nsv4456488
- 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:11,832,273
- Description:GRCh37/hg19 6q24.3-25.3(chr6:148195086-160127254)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: 32039 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 32041 SVs from 124 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4456488 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 147,873,950 | 159,706,222 |
| nsv4456488 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 148,195,086 | 160,127,254 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15774860 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000846496.2, VCV000685788.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15774860 | Remapped | Good | NC_000006.12:g.(?_ 147873950)_(159706 222_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 147,873,950 | 159,706,222 |
| nssv15774860 | Submitted genomic | NC_000006.11:g.(?_ 148195086)_(160127 254_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 148,195,086 | 160,127,254 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15774860 | GRCh37: NC_000006.11:g.(?_148195086)_(160127254_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV000846496.2, VCV000685788.2 | 3 |