nsv4676049
- 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:1,312,970
- Description:GRCh37/hg19 8q24.3(chr8:143616831-144930611)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: 6767 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 6714 SVs from 107 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4676049 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 142,535,470 | 143,848,439 |
| nsv4676049 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 143,616,831 | 144,930,611 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208205 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001006152.1, VCV000815175.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208205 | Remapped | Good | NC_000008.11:g.(?_ 142535470)_(143848 439_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 142,535,470 | 143,848,439 |
| nssv16208205 | Submitted genomic | NC_000008.10:g.(?_ 143616831)_(144930 611_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 143,616,831 | 144,930,611 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208205 | GRCh37: NC_000008.10:g.(?_143616831)_(144930611_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001006152.1, VCV000815175.1 | 1 |