nsv6637109
- 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:5,864,061
- Description:GRCh37/hg19 1q42.2-43(chr1:232895447-238787061)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: 16760 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 16747 SVs from 118 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637109 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 232,759,701 | 238,623,761 |
| nsv6637109 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 232,895,447 | 238,787,061 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18328868 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002474854.1, VCV001809009.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18328868 | Remapped | Good | NC_000001.11:g.(?_ 232759701)_(238623 761_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 232,759,701 | 238,623,761 |
| nssv18328868 | Submitted genomic | NC_000001.10:g.(?_ 232895447)_(238787 061_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 232,895,447 | 238,787,061 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18328868 | GRCh37: NC_000001.10:g.(?_232895447)_(238787061_?)del | copy number loss | unknown | not provided | Uncertain significance | ClinVar | RCV002474854.1, VCV001809009.1 | 1 |