nsv6637090
- 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:202,004
- Description:GRCh37/hg19 6q14.2-14.3(chr6:84720708-84922710)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: 457 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 457 SVs from 50 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637090 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 84,010,989 | 84,212,992 |
| nsv6637090 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 84,720,708 | 84,922,710 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329556 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002472490.1, VCV001807684.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329556 | Remapped | Perfect | NC_000006.12:g.(?_ 84010989)_(8421299 2_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 84,010,989 | 84,212,992 |
| nssv18329556 | Submitted genomic | NC_000006.11:g.(?_ 84720708)_(8492271 0_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 84,720,708 | 84,922,710 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18329556 | GRCh37: NC_000006.11:g.(?_84720708)_(84922710_?)del | copy number loss | unknown | not provided | Uncertain significance | ClinVar | RCV002472490.1, VCV001807684.1 | 1 |