nsv6291249
- 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:12,894,182
- Description:GRCh37/hg19 4q21.21-22.1(chr4:80467886-93362064)x1 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: 33724 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 33724 SVs from 130 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6291249 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 79,546,732 | 92,440,913 |
| nsv6291249 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 80,467,886 | 93,362,064 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17956916 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001829208.1, VCV001341211.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17956916 | Remapped | Perfect | NC_000004.12:g.(?_ 79546732)_(9244091 3_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 79,546,732 | 92,440,913 |
| nssv17956916 | Submitted genomic | NC_000004.11:g.(?_ 80467886)_(9336206 4_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 80,467,886 | 93,362,064 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17956916 | GRCh37: NC_000004.11:g.(?_80467886)_(93362064_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001829208.1, VCV001341211.1 | 1 |