nsv4456268
- 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:3,112,189
- Description:GRCh37/hg19 15q22.33-23(chr15:67369118-70481307)x1 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: 7593 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 7595 SVs from 103 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4456268 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 67,076,780 | 70,188,968 |
| nsv4456268 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 67,369,118 | 70,481,307 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15774539 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000846047.2, VCV000685339.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15774539 | Remapped | Perfect | NC_000015.10:g.(?_ 67076780)_(7018896 8_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 67,076,780 | 70,188,968 |
| nssv15774539 | Submitted genomic | NC_000015.9:g.(?_6 7369118)_(70481307 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 67,369,118 | 70,481,307 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15774539 | GRCh37: NC_000015.9:g.(?_67369118)_(70481307_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000846047.2, VCV000685339.2 | 1 |