nsv4457751
- 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:41,938
- Description:GRCh37/hg19 21q22.12(chr21:37611891-37653828)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: 336 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 336 SVs from 56 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4457751 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 36,239,593 | 36,281,530 |
| nsv4457751 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 37,611,891 | 37,653,828 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15772993 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000848749.2, VCV000688058.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15772993 | Remapped | Perfect | NC_000021.9:g.(?_3 6239593)_(36281530 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 36,239,593 | 36,281,530 |
| nssv15772993 | Submitted genomic | NC_000021.8:g.(?_3 7611891)_(37653828 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 37,611,891 | 37,653,828 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15772993 | GRCh37: NC_000021.8:g.(?_37611891)_(37653828_?)del | copy number loss | unknown | not provided | Uncertain significance | ClinVar | RCV000848749.2, VCV000688058.2 | 1 |