nsv4729393
- 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:965,004
- Description:GRCh37/hg19 6p12.2-12.1(chr6:52657712-53622715)x3 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: 2724 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 2724 SVs from 96 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729393 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 52,792,914 | 53,757,917 |
| nsv4729393 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 52,657,712 | 53,622,715 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16253988 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001258723.1, VCV000979547.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16253988 | Remapped | Perfect | NC_000006.12:g.(?_ 52792914)_(5375791 7_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 52,792,914 | 53,757,917 |
| nssv16253988 | Submitted genomic | NC_000006.11:g.(?_ 52657712)_(5362271 5_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 52,657,712 | 53,622,715 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16253988 | GRCh37: NC_000006.11:g.(?_52657712)_(53622715_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001258723.1, VCV000979547.1 | 3 |