nsv3883931
- 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:22,026,668
- Description:Single allele 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: 52765 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 52767 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 | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3883931 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 63,444,212 | 85,470,879 |
| nsv3883931 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 63,671,346 | 85,698,002 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15151660 | duplication | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000677942.2, VCV000560065.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15151660 | Remapped | Perfect | NC_000002.12:g.634 44212_85470879dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 63,444,212 | 85,470,879 |
| nssv15151660 | Submitted genomic | NC_000002.11:g.636 71346_85698002dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 63,671,346 | 85,698,002 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15151660 | GRCh37: NC_000002.11:g.63671346_85698002dup | duplication | de novo | not provided | Pathogenic | ClinVar | RCV000677942.2, VCV000560065.2 | 3 |