nsv4452748
- 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:2,782,085
- Description:GRCh37/hg19 2q31.1-31.2(chr2:176310551-179092634)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: 7027 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 7027 SVs from 104 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4452748 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 175,445,823 | 178,227,907 |
| nsv4452748 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 176,310,551 | 179,092,634 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15776287 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000849015.2, VCV000688324.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15776287 | Remapped | Perfect | NC_000002.12:g.(?_ 175445823)_(178227 907_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 175,445,823 | 178,227,907 |
| nssv15776287 | Submitted genomic | NC_000002.11:g.(?_ 176310551)_(179092 634_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 176,310,551 | 179,092,634 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15776287 | GRCh37: NC_000002.11:g.(?_176310551)_(179092634_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000849015.2, VCV000688324.2 | 1 |