nsv6636667
- 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:1,018,453
- Description:GRCh37/hg19 6q23.2(chr6:133522860-134541311)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: 2446 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 2446 SVs from 91 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6636667 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 133,201,721 | 134,220,173 |
| nsv6636667 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 133,522,860 | 134,541,311 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330541 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002474801.1, VCV001808956.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330541 | Remapped | Perfect | NC_000006.12:g.(?_ 133201721)_(134220 173_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 133,201,721 | 134,220,173 |
| nssv18330541 | Submitted genomic | NC_000006.11:g.(?_ 133522860)_(134541 311_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 133,522,860 | 134,541,311 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330541 | GRCh37: NC_000006.11:g.(?_133522860)_(134541311_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV002474801.1, VCV001808956.1 | 1 |