nsv4457558
- 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:542,657
- Description:GRCh37/hg19 21q22.3(chr21:44577746-45120173)x3 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: 1983 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 1989 SVs from 106 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4457558 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 43,157,636 | 43,700,292 |
| nsv4457558 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 44,577,746 | 45,120,173 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15772966 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000848696.2, VCV000688005.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15772966 | Remapped | Good | NC_000021.9:g.(?_4 3157636)_(43700292 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 43,157,636 | 43,700,292 |
| nssv15772966 | Submitted genomic | NC_000021.8:g.(?_4 4577746)_(45120173 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 44,577,746 | 45,120,173 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15772966 | GRCh37: NC_000021.8:g.(?_44577746)_(45120173_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV000848696.2, VCV000688005.2 | 3 |