nsv4674383
- 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:48,685,813
- Description:GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)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: 114691 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 114728 SVs from 138 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4674383 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 162,376,652 | 211,062,464 |
| nsv4674383 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 163,233,162 | 211,927,188 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207855 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001005349.1, VCV000814337.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207855 | Remapped | Good | NC_000002.12:g.(?_ 162376652)_(211062 464_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 162,376,652 | 211,062,464 |
| nssv16207855 | Submitted genomic | NC_000002.11:g.(?_ 163233162)_(211927 188_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 163,233,162 | 211,927,188 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207855 | GRCh37: NC_000002.11:g.(?_163233162)_(211927188_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV001005349.1, VCV000814337.1 | 3 |