nsv4349636
- 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:3,105,161
- Description:GRCh37/hg19 6q22.33-23.2(chr6:129513837-132618991) 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: 7418 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 7418 SVs from 104 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4349636 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 129,192,692 | 132,297,852 |
| nsv4349636 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 129,513,837 | 132,618,991 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15605893 | copy number loss | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV000767715.1, VCV000625707.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15605893 | Remapped | Perfect | NC_000006.12:g.(?_ 129192692)_(132297 852_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 129,192,692 | 132,297,852 |
| nssv15605893 | Submitted genomic | NC_000006.11:g.(?_ 129513837)_(132618 991_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 129,513,837 | 132,618,991 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15605893 | GRCh37: NC_000006.11:g.(?_129513837)_(132618991_?)del | copy number loss | de novo | not provided | Likely pathogenic | ClinVar | RCV000767715.1, VCV000625707.1 |