nsv4729496
- 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:814,369
- Description:GRCh37/hg19 7p22.3(chr7:967185-1781553)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: 5213 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 5213 SVs from 106 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729496 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 927,549 | 1,741,917 |
| nsv4729496 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 967,185 | 1,781,553 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16255674 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001259996.1, VCV000980820.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16255674 | Remapped | Perfect | NC_000007.14:g.(?_ 927549)_(1741917_? )dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 927,549 | 1,741,917 |
| nssv16255674 | Submitted genomic | NC_000007.13:g.(?_ 967185)_(1781553_? )dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 967,185 | 1,781,553 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16255674 | GRCh37: NC_000007.13:g.(?_967185)_(1781553_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001259996.1, VCV000980820.1 | 3 |