nsv3894469
- 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:225,949
- Description:GRCh37/hg19 7q11.23-21.11(chr7:77303478-77529426)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 672 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 673 SVs from 58 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3894469 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 77,674,161 | 77,900,109 |
| nsv3894469 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 77,303,478 | 77,529,426 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15149932 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000511672.2, VCV000443713.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15149932 | Remapped | Perfect | NC_000007.14:g.(?_ 77674161)_(7790010 9_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 77,674,161 | 77,900,109 |
| nssv15149932 | Submitted genomic | NC_000007.13:g.(?_ 77303478)_(7752942 6_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 77,303,478 | 77,529,426 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15149932 | GRCh37: NC_000007.13:g.(?_77303478)_(77529426_?)del | copy number loss | not provided | See cases | Uncertain significance | ClinVar | RCV000511672.2, VCV000443713.2 | 1 |