nsv6637243
- 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:5,286,731
- Description:GRCh37/hg19 10q26.2-26.3(chr10:130043370-135345340)x1 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: 23485 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 23268 SVs from 128 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637243 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 128,245,106 | 133,531,836 |
| nsv6637243 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 130,043,370 | 135,345,340 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330225 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002473957.1, VCV001808640.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330225 | Remapped | Good | NC_000010.11:g.(?_ 128245106)_(133531 836_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 128,245,106 | 133,531,836 |
| nssv18330225 | Submitted genomic | NC_000010.10:g.(?_ 130043370)_(135345 340_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 130,043,370 | 135,345,340 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330225 | GRCh37: NC_000010.10:g.(?_130043370)_(135345340_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV002473957.1, VCV001808640.1 | 1 |