nsv4676001
- 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:75,763
- Description:GRCh37/hg19 8q12.3(chr8:62350388-62426150)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: 249 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 249 SVs from 43 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4676001 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 61,437,829 | 61,513,591 |
| nsv4676001 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 62,350,388 | 62,426,150 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208864 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001006106.1, VCV000815129.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208864 | Remapped | Perfect | NC_000008.11:g.(?_ 61437829)_(6151359 1_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 61,437,829 | 61,513,591 |
| nssv16208864 | Submitted genomic | NC_000008.10:g.(?_ 62350388)_(6242615 0_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 62,350,388 | 62,426,150 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208864 | GRCh37: NC_000008.10:g.(?_62350388)_(62426150_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV001006106.1, VCV000815129.1 | 1 |