nsv3888972
- 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:2,611,067
- 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: 6016 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 6017 SVs from 109 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3888972 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 72,666,198 | 75,277,264 |
| nsv3888972 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 72,958,539 | 75,569,605 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15151686 | deletion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000677994.2, VCV000560117.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15151686 | Remapped | Perfect | NC_000015.10:g.726 66198_75277264del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 72,666,198 | 75,277,264 |
| nssv15151686 | Submitted genomic | NC_000015.9:g.7295 8539_75569605del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 72,958,539 | 75,569,605 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15151686 | GRCh37: NC_000015.9:g.72958539_75569605del | deletion | unknown | not provided | Pathogenic | ClinVar | RCV000677994.2, VCV000560117.2 | 1 |