nsv4729289
- 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:558,691
- Description:GRCh37/hg19 6q22.1(chr6:116978714-117537404)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: 1301 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 1301 SVs from 68 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729289 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 116,657,551 | 117,216,241 |
| nsv4729289 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 116,978,714 | 117,537,404 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16254323 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001259396.1, VCV000980220.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16254323 | Remapped | Perfect | NC_000006.12:g.(?_ 116657551)_(117216 241_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 116,657,551 | 117,216,241 |
| nssv16254323 | Submitted genomic | NC_000006.11:g.(?_ 116978714)_(117537 404_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 116,978,714 | 117,537,404 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16254323 | GRCh37: NC_000006.11:g.(?_116978714)_(117537404_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV001259396.1, VCV000980220.1 | 1 |