nsv5200324
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:334,077
- Description:Single allele 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: 910 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 910 SVs from 74 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5200324 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 61,919,523 | 62,253,599 | ||
| nsv5200324 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 62,211,722 | 62,545,798 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16736600 | duplication | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV001291766.1, VCV000996951.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16736600 | Submitted genomic | NC_000015.10:g.619 19523_62253599dup | GRCh38 (hg38) | NC_000015.10 | Chr15 | 61,919,523 | 62,253,599 | ||
| nssv16736600 | Remapped | Perfect | NC_000015.9:g.6221 1722_62545798dup | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 62,211,722 | 62,545,798 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16736600 | GRCh38: NC_000015.10:g.61919523_62253599dup | duplication | germline | See cases | Uncertain significance | ClinVar | RCV001291766.1, VCV000996951.1 |