nsv6637241
- 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:644,874
- Description:GRCh37/hg19 10p15.1(chr10:4558510-5203154)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: 2207 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 2198 SVs from 92 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637241 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 4,516,318 | 5,161,191 |
| nsv6637241 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 4,558,510 | 5,203,154 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330955 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002472816.1, VCV001808010.1 | 4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330955 | Remapped | Good | NC_000010.11:g.(?_ 4516318)_(5161191_ ?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 4,516,318 | 5,161,191 |
| nssv18330955 | Submitted genomic | NC_000010.10:g.(?_ 4558510)_(5203154_ ?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 4,558,510 | 5,203,154 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330955 | GRCh37: NC_000010.10:g.(?_4558510)_(5203154_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV002472816.1, VCV001808010.1 | 4 |