nsv6291252
- 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:322,543
- Description:GRCh37/hg19 4q13.3(chr4:72998352-73320894)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: 780 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 780 SVs from 67 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6291252 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 72,132,635 | 72,455,177 |
| nsv6291252 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 72,998,352 | 73,320,894 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17956628 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001827806.1, VCV001340436.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17956628 | Remapped | Perfect | NC_000004.12:g.(?_ 72132635)_(7245517 7_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 72,132,635 | 72,455,177 |
| nssv17956628 | Submitted genomic | NC_000004.11:g.(?_ 72998352)_(7332089 4_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 72,998,352 | 73,320,894 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17956628 | GRCh37: NC_000004.11:g.(?_72998352)_(73320894_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001827806.1, VCV001340436.1 | 3 |