nsv3889018
- 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:49,976
- Description:GRCh37/hg19 1p34.1(chr1:45237119-45287094)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: 347 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 347 SVs from 56 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3889018 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 44,771,447 | 44,821,422 |
| nsv3889018 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 45,237,119 | 45,287,094 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15170334 | copy number loss | Multiple | Multiple | not provided | Benign | ClinVar | RCV000748971.2, VCV000612335.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15170334 | Remapped | Perfect | NC_000001.11:g.(?_ 44771447)_(4482142 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 44,771,447 | 44,821,422 |
| nssv15170334 | Submitted genomic | NC_000001.10:g.(?_ 45237119)_(4528709 4_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 45,237,119 | 45,287,094 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15170334 | GRCh37: NC_000001.10:g.(?_45237119)_(45287094_?)del | copy number loss | unknown | not provided | Benign | ClinVar | RCV000748971.2, VCV000612335.2 | 1 |