nsv6636857
- 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:166,485
- Description:GRCh37/hg19 1q25.3(chr1:182442865-182609349)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: 477 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 479 SVs from 53 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6636857 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 182,473,730 | 182,640,214 |
| nsv6636857 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 182,442,865 | 182,609,349 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329306 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002475783.1, VCV001809410.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329306 | Remapped | Perfect | NC_000001.11:g.(?_ 182473730)_(182640 214_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 182,473,730 | 182,640,214 |
| nssv18329306 | Submitted genomic | NC_000001.10:g.(?_ 182442865)_(182609 349_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 182,442,865 | 182,609,349 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18329306 | GRCh37: NC_000001.10:g.(?_182442865)_(182609349_?)del | copy number loss | unknown | not provided | Uncertain significance | ClinVar | RCV002475783.1, VCV001809410.1 | 1 |