nsv4728545
- 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:8,135,168
- Description:GRCh37/hg19 2q33.2-34(chr2:204445619-212580788)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: 18956 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 18960 SVs from 122 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728545 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 203,580,896 | 211,716,063 |
| nsv4728545 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 204,445,619 | 212,580,788 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16253926 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001258576.1, VCV000979400.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16253926 | Remapped | Perfect | NC_000002.12:g.(?_ 203580896)_(211716 063_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 203,580,896 | 211,716,063 |
| nssv16253926 | Submitted genomic | NC_000002.11:g.(?_ 204445619)_(212580 788_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 204,445,619 | 212,580,788 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16253926 | GRCh37: NC_000002.11:g.(?_204445619)_(212580788_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001258576.1, VCV000979400.1 | 1 |