nsv4730021
- 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:33,413,664
- Description:GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3 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: 105700 SVs from 142 studies. See in: genome view
Overlapping variant regions from other studies: 105779 SVs from 142 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4730021 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 13,256,742 | 46,670,405 |
| nsv4730021 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 14,629,063 | 48,090,317 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16254725 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV001263025.1, VCV000983157.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16254725 | Remapped | Good | NC_000021.9:g.(132 56742_?)_(?_466704 05)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,256,742 | 46,670,405 |
| nssv16254725 | Submitted genomic | NC_000021.8:g.(146 29063_?)_(?_480903 17)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 14,629,063 | 48,090,317 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16254725 | GRCh37: NC_000021.8:g.(14629063_?)_(?_48090317)dup | copy number gain | unknown | See cases | Pathogenic | ClinVar | RCV001263025.1, VCV000983157.1 | 3 |