nsv4729757
- 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:12,121,115
- Description:GRCh37/hg19 20p11.23-q11.21(chr20:19750804-30479077)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: 24696 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 21403 SVs from 122 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729757 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 19,770,160 | 31,891,274 |
| nsv4729757 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 19,750,804 | 30,479,077 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16253994 | copy number gain | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV001258738.1, VCV000979562.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16253994 | Remapped | Pass | NC_000020.11:g.(?_ 19770160)_(3189127 4_?)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 19,770,160 | 31,891,274 |
| nssv16253994 | Submitted genomic | NC_000020.10:g.(?_ 19750804)_(3047907 7_?)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 19,750,804 | 30,479,077 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16253994 | GRCh37: NC_000020.10:g.(?_19750804)_(30479077_?)dup | copy number gain | germline | not provided | Likely pathogenic | ClinVar | RCV001258738.1, VCV000979562.1 | 3 |