nsv6315176
- 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:6,752,371
- Description:GRCh37/hg19 8p21.3-21.2(chr8:19779604-26531980)x4 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: 18745 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 18750 SVs from 120 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6315176 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 19,922,093 | 26,674,463 |
| nsv6315176 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 19,779,604 | 26,531,980 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17976648 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002279745.1, VCV001341975.1 | 4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976648 | Remapped | Perfect | NC_000008.11:g.(?_ 19922093)_(2667446 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 19,922,093 | 26,674,463 |
| nssv17976648 | Submitted genomic | NC_000008.10:g.(?_ 19779604)_(2653198 0_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 19,779,604 | 26,531,980 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17976648 | GRCh37: NC_000008.10:g.(?_19779604)_(26531980_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV002279745.1, VCV001341975.1 | 4 |