nsv6634360
- 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:77,070,189
- Description:GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 203132 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 202916 SVs from 143 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6634360 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 68,000,197 | 145,070,385 |
| nsv6634360 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 68,912,432 | 146,295,771 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18326351 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV002292707.1, VCV001711167.1 | 2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18326351 | Remapped | Good | NC_000008.11:g.(68 000197_?)_(?_14507 0385)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 68,000,197 | 145,070,385 |
| nssv18326351 | Submitted genomic | NC_000008.10:g.(68 912432_?)_(?_14629 5771)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 68,912,432 | 146,295,771 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18326351 | GRCh37: NC_000008.10:g.(68912432_?)_(?_146295771)dup | copy number gain | unknown | See cases | Pathogenic | ClinVar | RCV002292707.1, VCV001711167.1 | 2 |