nsv6315409
- 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:9,284,661
- Description:GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804) AND Chromosome 1p36 deletion syndrome, proximal
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 37415 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 37412 SVs from 132 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6315409 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 914,086 | 10,198,746 |
| nsv6315409 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 849,466 | 10,258,804 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17976902 | copy number loss | Multiple | Multiple | CHROMOSOME 1p36 DELETION SYNDROME, PROXIMAL; Chromosome 1p36 deletion syndrome, proximal | Pathogenic | ClinVar | RCV002280717.1, VCV001703629.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976902 | Remapped | Good | NC_000001.11:g.(?_ 914086)_(10198746_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 914,086 | 10,198,746 |
| nssv17976902 | Submitted genomic | NC_000001.10:g.(?_ 849466)_(10258804_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 849,466 | 10,258,804 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17976902 | GRCh37: NC_000001.10:g.(?_849466)_(10258804_?)del | copy number loss | unknown | CHROMOSOME 1p36 DELETION SYNDROME, PROXIMAL; Chromosome 1p36 deletion syndrome, proximal | Pathogenic | ClinVar | RCV002280717.1, VCV001703629.1 |