nsv3875392
- 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:26,907,546
- Description:GRCh37/hg19 2q23.3-31.2(chr2:152409978-179325736)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: 63078 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 63111 SVs from 134 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3875392 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 151,553,464 | 178,461,009 |
| nsv3875392 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 152,409,978 | 179,325,736 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15162217 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000740654.2, VCV000604018.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15162217 | Remapped | Good | NC_000002.12:g.(?_ 151553464)_(178461 009_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 151,553,464 | 178,461,009 |
| nssv15162217 | Submitted genomic | NC_000002.11:g.(?_ 152409978)_(179325 736_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 152,409,978 | 179,325,736 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15162217 | GRCh37: NC_000002.11:g.(?_152409978)_(179325736_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV000740654.2, VCV000604018.2 | 3 |