nsv4729952
- 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:1,083,008
- Description:GRCh37/hg19 20p13(chr20:3116478-4199486)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: 4007 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 4008 SVs from 88 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729952 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 3,135,832 | 4,218,839 |
| nsv4729952 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 3,116,478 | 4,199,486 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16255095 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001258904.1, VCV000979728.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16255095 | Remapped | Perfect | NC_000020.11:g.(?_ 3135832)_(4218839_ ?)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 3,135,832 | 4,218,839 |
| nssv16255095 | Submitted genomic | NC_000020.10:g.(?_ 3116478)_(4199486_ ?)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 3,116,478 | 4,199,486 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16255095 | GRCh37: NC_000020.10:g.(?_3116478)_(4199486_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001258904.1, VCV000979728.1 | 3 |