nsv3888489
- 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:6,854,499
- Description:GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856) AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 15517 SVs from 116 studies. See in: genome view
Overlapping variant regions from other studies: 15516 SVs from 116 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3888489 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 44,837,686 | 51,692,184 |
| nsv3888489 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 45,303,358 | 52,157,856 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969809 | copy number loss | Multiple | Multiple | not specified | Likely pathogenic | ClinVar | RCV002053281.3, VCV001526949.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969809 | Remapped | Perfect | NC_000001.11:g.(?_ 44837686)_(5169218 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 44,837,686 | 51,692,184 |
| nssv17969809 | Submitted genomic | NC_000001.10:g.(?_ 45303358)_(5215785 6_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 45,303,358 | 52,157,856 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969809 | GRCh37: NC_000001.10:g.(?_45303358)_(52157856_?)del | copy number loss | germline | not specified | Likely pathogenic | ClinVar | RCV002053281.3, VCV001526949.3 |