nsv3891386
- 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:3,376,218
- Description:GRCh37/hg19 8q12.3-13.2(chr8:65194424-68570319) 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: 7478 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 7472 SVs from 102 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3891386 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 64,281,867 | 67,658,084 |
| nsv3891386 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 65,194,424 | 68,570,319 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17970296 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053768.3, VCV001527436.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17970296 | Remapped | Good | NC_000008.11:g.(?_ 64281867)_(6765808 4_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 64,281,867 | 67,658,084 |
| nssv17970296 | Submitted genomic | NC_000008.10:g.(?_ 65194424)_(6857031 9_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 65,194,424 | 68,570,319 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17970296 | GRCh37: NC_000008.10:g.(?_65194424)_(68570319_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002053768.3, VCV001527436.3 |