nsv7137210
- 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:3,142,049
- Description:GRCh37/hg19 15q24.1-24.2(chr15:72943184-76085232) AND Chromosome 15q24 deletion syndrome
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 7287 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 7288 SVs from 114 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7137210 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 72,650,843 | 75,792,891 |
| nsv7137210 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 72,943,184 | 76,085,232 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18830983 | copy number loss | Multiple | Multiple | Witteveen-kolk syndrome | Pathogenic | ClinVar | RCV003319589.1, VCV002574692.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18830983 | Remapped | Perfect | NC_000015.10:g.(72 650843_?)_(?_75792 891)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 72,650,843 | 75,792,891 |
| nssv18830983 | Submitted genomic | NC_000015.9:g.(729 43184_?)_(?_760852 32)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 72,943,184 | 76,085,232 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18830983 | GRCh37: NC_000015.9:g.(72943184_?)_(?_76085232)del | copy number loss | unknown | Witteveen-kolk syndrome | Pathogenic | ClinVar | RCV003319589.1, VCV002574692.1 |