nsv6636338
- 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:9,551,418
- Description:GRCh37/hg19 6q16.1-21(chr6:96946110-106497526)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: 22782 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 22782 SVs from 125 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6636338 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 96,498,234 | 106,049,651 |
| nsv6636338 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 96,946,110 | 106,497,526 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330759 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002472620.1, VCV001807814.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330759 | Remapped | Perfect | NC_000006.12:g.(?_ 96498234)_(1060496 51_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 96,498,234 | 106,049,651 |
| nssv18330759 | Submitted genomic | NC_000006.11:g.(?_ 96946110)_(1064975 26_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 96,946,110 | 106,497,526 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330759 | GRCh37: NC_000006.11:g.(?_96946110)_(106497526_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV002472620.1, VCV001807814.1 | 1 |