nsv5564143
- 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:946,472
- Description:NC_000015.9:g.(?_98982860)_(99926307_?)dup 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: 2967 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 2969 SVs from 92 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5564143 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 98,439,631 | 99,386,102 |
| nsv5564143 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 98,982,860 | 99,926,307 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17059276 | duplication | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001372150.4, VCV001062437.4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17059276 | Remapped | Good | NC_000015.10:g.(?_ 98439631)_(9938610 2_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 98,439,631 | 99,386,102 |
| nssv17059276 | Submitted genomic | NC_000015.9:g.(?_9 8982860)_(99926307 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 98,982,860 | 99,926,307 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17059276 | GRCh37: NC_000015.9:g.(?_98982860)_(99926307_?)dup | duplication | germline | not provided | Uncertain significance | ClinVar | RCV001372150.4, VCV001062437.4 |