nsv4455826
- 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:7,908,312
- Description:GRCh37/hg19 7q31.32-32.2(chr7:121480906-129389003)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: 20072 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 20078 SVs from 123 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4455826 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 121,840,852 | 129,749,163 |
| nsv4455826 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 121,480,906 | 129,389,003 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15775763 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000847911.2, VCV000687212.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15775763 | Remapped | Good | NC_000007.14:g.(?_ 121840852)_(129749 163_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 121,840,852 | 129,749,163 |
| nssv15775763 | Submitted genomic | NC_000007.13:g.(?_ 121480906)_(129389 003_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 121,480,906 | 129,389,003 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15775763 | GRCh37: NC_000007.13:g.(?_121480906)_(129389003_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000847911.2, VCV000687212.2 | 1 |