nsv6313579
- 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:10,911,245
- Description:GRCh37/hg19 8q21.11-21.3(chr8:77906471-88917707) AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 26801 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 26820 SVs from 132 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313579 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 76,994,235 | 87,905,479 |
| nsv6313579 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 77,906,471 | 88,917,707 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17970304 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053776.3, VCV001527444.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17970304 | Remapped | Good | NC_000008.11:g.(?_ 76994235)_(8790547 9_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 76,994,235 | 87,905,479 |
| nssv17970304 | Submitted genomic | NC_000008.10:g.(?_ 77906471)_(8891770 7_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 77,906,471 | 88,917,707 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17970304 | GRCh37: NC_000008.10:g.(?_77906471)_(88917707_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002053776.3, VCV001527444.3 |