nsv4729754
- 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:811,543
- Description:GRCh37/hg19 20q13.33(chr20:61507440-62318983)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: 4710 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 4711 SVs from 105 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729754 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 62,876,088 | 63,687,630 |
| nsv4729754 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 61,507,440 | 62,318,983 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16254080 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001258919.1, VCV000979743.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16254080 | Remapped | Perfect | NC_000020.11:g.(?_ 62876088)_(6368763 0_?)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 62,876,088 | 63,687,630 |
| nssv16254080 | Submitted genomic | NC_000020.10:g.(?_ 61507440)_(6231898 3_?)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 61,507,440 | 62,318,983 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16254080 | GRCh37: NC_000020.10:g.(?_61507440)_(62318983_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001258919.1, VCV000979743.1 | 3 |