nsv3882925
- 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:2,388,164
- Description:GRCh37/hg19 1q22-23.1(chr1:155636337-158024499)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: 5704 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 5709 SVs from 99 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3882925 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 155,666,546 | 158,054,709 |
| nsv3882925 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 155,636,337 | 158,024,499 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15153316 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000684658.1, VCV000565183.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15153316 | Remapped | Perfect | NC_000001.11:g.(?_ 155666546)_(158054 709_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 155,666,546 | 158,054,709 |
| nssv15153316 | Submitted genomic | NC_000001.10:g.(?_ 155636337)_(158024 499_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 155,636,337 | 158,024,499 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15153316 | GRCh37: NC_000001.10:g.(?_155636337)_(158024499_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV000684658.1, VCV000565183.1 | 1 |