nsv7148132
- 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:12,266,456
- Description:GRCh37/hg19 8q24.21-24.3(chr8:131138343-143473913) AND Distal trisomy 8q
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 35072 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 35077 SVs from 129 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7148132 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 130,126,097 | 142,392,552 |
| nsv7148132 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 131,138,343 | 143,473,913 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18841906 | copy number gain | Multiple | Multiple | Distal trisomy 8q | Pathogenic | ClinVar | RCV003325441.1, VCV002578018.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18841906 | Remapped | Good | NC_000008.11:g.(13 0126097_?)_(?_1423 92552)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 130,126,097 | 142,392,552 |
| nssv18841906 | Submitted genomic | NC_000008.10:g.(13 1138343_?)_(?_1434 73913)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 131,138,343 | 143,473,913 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18841906 | GRCh37: NC_000008.10:g.(131138343_?)_(?_143473913)dup | copy number gain | unknown | Distal trisomy 8q | Pathogenic | ClinVar | RCV003325441.1, VCV002578018.1 |