nsv6290720
- 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:872,369
- Description:GRCh37/hg19 6p21.1(chr6:45284656-46157024)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: 1726 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 1726 SVs from 76 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6290720 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 45,316,919 | 46,189,287 |
| nsv6290720 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 45,284,656 | 46,157,024 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17957265 | copy number gain | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV001834542.1, VCV001341311.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17957265 | Remapped | Perfect | NC_000006.12:g.(?_ 45316919)_(4618928 7_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 45,316,919 | 46,189,287 |
| nssv17957265 | Submitted genomic | NC_000006.11:g.(?_ 45284656)_(4615702 4_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 45,284,656 | 46,157,024 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17957265 | GRCh37: NC_000006.11:g.(?_45284656)_(46157024_?)dup | copy number gain | germline | not provided | Likely pathogenic | ClinVar | RCV001834542.1, VCV001341311.1 | 3 |