nsv6636292
- 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:2,141,785
- Description:GRCh37/hg19 1p36.33-36.32(chr1:849467-2972435)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: 13490 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 13482 SVs from 121 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6636292 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 914,087 | 3,055,871 |
| nsv6636292 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 849,467 | 2,972,435 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329595 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002472529.1, VCV001807723.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329595 | Remapped | Good | NC_000001.11:g.(?_ 914087)_(3055871_? )del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 914,087 | 3,055,871 |
| nssv18329595 | Submitted genomic | NC_000001.10:g.(?_ 849467)_(2972435_? )del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 849,467 | 2,972,435 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18329595 | GRCh37: NC_000001.10:g.(?_849467)_(2972435_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV002472529.1, VCV001807723.1 | 1 |