nsv4675941
- 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:3,052,436
- Description:GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)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: 23938 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 23939 SVs from 130 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675941 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 31,068,620 | 34,121,055 |
| nsv4675941 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 31,036,397 | 34,088,832 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16206814 | copy number gain | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV001005791.1, VCV000814807.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16206814 | Remapped | Perfect | NC_000006.12:g.(?_ 31068620)_(3412105 5_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,068,620 | 34,121,055 |
| nssv16206814 | Submitted genomic | NC_000006.11:g.(?_ 31036397)_(3408883 2_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,036,397 | 34,088,832 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16206814 | GRCh37: NC_000006.11:g.(?_31036397)_(34088832_?)dup | copy number gain | germline | not provided | Likely pathogenic | ClinVar | RCV001005791.1, VCV000814807.1 | 3 |