nsv4674348
- 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:5,028,810
- Description:GRCh37/hg19 1p36.33-36.31(chr1:849466-6002955)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: 23209 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 23206 SVs from 124 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4674348 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 914,086 | 5,942,895 |
| nsv4674348 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 849,466 | 6,002,955 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207697 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001005058.1, VCV000814046.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207697 | Remapped | Good | NC_000001.11:g.(?_ 914086)_(5942895_? )del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 914,086 | 5,942,895 |
| nssv16207697 | Submitted genomic | NC_000001.10:g.(?_ 849466)_(6002955_? )del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 849,466 | 6,002,955 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207697 | GRCh37: NC_000001.10:g.(?_849466)_(6002955_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001005058.1, VCV000814046.1 | 1 |