nsv4457617
- 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:60,604
- Description:GRCh37/hg19 21q22.3(chr21:43852444-43913048)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: 293 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 295 SVs from 51 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4457617 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 42,432,335 | 42,492,938 |
| nsv4457617 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 43,852,444 | 43,913,048 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15771983 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000846195.2, VCV000685487.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15771983 | Remapped | Good | NC_000021.9:g.(?_4 2432335)_(42492938 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 42,432,335 | 42,492,938 |
| nssv15771983 | Submitted genomic | NC_000021.8:g.(?_4 3852444)_(43913048 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 43,852,444 | 43,913,048 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15771983 | GRCh37: NC_000021.8:g.(?_43852444)_(43913048_?)del | copy number loss | unknown | not provided | Uncertain significance | ClinVar | RCV000846195.2, VCV000685487.2 | 1 |