nsv4451506
- 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:1,376,403
- Description:GRCh37/hg19 1p34.2-34.1(chr1:43336799-44713202)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: 3486 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 3486 SVs from 90 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4451506 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 42,871,128 | 44,247,530 |
| nsv4451506 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 43,336,799 | 44,713,202 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15773642 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000850001.2, VCV000689310.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15773642 | Remapped | Perfect | NC_000001.11:g.(?_ 42871128)_(4424753 0_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 42,871,128 | 44,247,530 |
| nssv15773642 | Submitted genomic | NC_000001.10:g.(?_ 43336799)_(4471320 2_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 43,336,799 | 44,713,202 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15773642 | GRCh37: NC_000001.10:g.(?_43336799)_(44713202_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000850001.2, VCV000689310.2 | 1 |