nsv3875055
- 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:32,925,011
- Description:GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)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: 89711 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 89738 SVs from 135 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3875055 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 27,638,840 | 60,563,850 |
| nsv3875055 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 27,861,707 | 60,790,985 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15141007 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000454271.1, VCV000402127.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15141007 | Remapped | Good | NC_000002.12:g.(?_ 27638840)_(6056385 0_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 27,638,840 | 60,563,850 |
| nssv15141007 | Submitted genomic | NC_000002.11:g.(?_ 27861707)_(6079098 5_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 27,861,707 | 60,790,985 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15141007 | GRCh37: NC_000002.11:g.(?_27861707)_(60790985_?)dup | copy number gain | unknown | See cases | Pathogenic | ClinVar | RCV000454271.1, VCV000402127.1 | 3 |