nsv3893160
- 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:3,725,958
- Description:GRCh37/hg19 21q22.13-22.2(chr21:38176362-41901945)x1 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: 10484 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 10482 SVs from 112 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3893160 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 36,804,061 | 40,530,018 |
| nsv3893160 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 38,176,362 | 41,901,945 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15141370 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000449183.3, VCV000395335.3 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15141370 | Remapped | Good | NC_000021.9:g.(?_3 6804061)_(40530018 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 36,804,061 | 40,530,018 |
| nssv15141370 | Submitted genomic | NC_000021.8:g.(?_3 8176362)_(41901945 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 38,176,362 | 41,901,945 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15141370 | GRCh37: NC_000021.8:g.(?_38176362)_(41901945_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000449183.3, VCV000395335.3 | 1 |