nsv7148130
- 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:13,111,490
- Description:GRCh37/hg19 8p11.23-q11.21(chr8:36763176-50929707)x3 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: 30383 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 30306 SVs from 127 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7148130 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 36,905,658 | 50,017,147 |
| nsv7148130 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 36,763,176 | 50,929,707 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18842077 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV003329560.1, VCV002580355.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18842077 | Remapped | Pass | NC_000008.11:g.(?_ 36905658)_(5001714 7_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 36,905,658 | 50,017,147 |
| nssv18842077 | Submitted genomic | NC_000008.10:g.(?_ 36763176)_(5092970 7_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 36,763,176 | 50,929,707 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18842077 | GRCh37: NC_000008.10:g.(?_36763176)_(50929707_?)dup | copy number gain | de novo | See cases | Pathogenic | ClinVar | RCV003329560.1, VCV002580355.1 | 3 |