nsv6637770
- 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:4,378,039
- Description:GRCh37/hg19 9p21.2-21.1(chr9:27257570-31635608)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: 13990 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 13996 SVs from 121 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637770 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 27,257,572 | 31,635,610 |
| nsv6637770 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 27,257,570 | 31,635,608 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330925 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002472786.1, VCV001807980.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330925 | Remapped | Perfect | NC_000009.12:g.(?_ 27257572)_(3163561 0_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 27,257,572 | 31,635,610 |
| nssv18330925 | Submitted genomic | NC_000009.11:g.(?_ 27257570)_(3163560 8_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 27,257,570 | 31,635,608 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330925 | GRCh37: NC_000009.11:g.(?_27257570)_(31635608_?)del | copy number loss | unknown | not provided | Uncertain significance | ClinVar | RCV002472786.1, VCV001807980.1 | 1 |