nsv7148128
- 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:6,696,938
- Description:GRCh37/hg19 8p23.3-23.1(chr8:10501-6614959)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: 35067 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 34718 SVs from 135 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7148128 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 60,501 | 6,757,438 |
| nsv7148128 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 10,501 | 6,614,959 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18842076 | copy number loss | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV003329559.1, VCV002580354.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18842076 | Remapped | Good | NC_000008.11:g.(?_ 60501)_(6757438_?) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 60,501 | 6,757,438 |
| nssv18842076 | Submitted genomic | NC_000008.10:g.(?_ 10501)_(6614959_?) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 10,501 | 6,614,959 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18842076 | GRCh37: NC_000008.10:g.(?_10501)_(6614959_?)del | copy number loss | unknown | See cases | Likely pathogenic | ClinVar | RCV003329559.1, VCV002580354.1 | 1 |