nsv4350090
- 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:7,614,235
- Description:GRCh37/hg19 20p12.2-11.23(chr20:11716825-19331055) 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: 24330 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 24332 SVs from 127 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4350090 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 11,736,177 | 19,350,411 |
| nsv4350090 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 11,716,825 | 19,331,055 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15606079 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000767743.1, VCV000625735.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15606079 | Remapped | Perfect | NC_000020.11:g.(?_ 11736177)_(1935041 1_?)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 11,736,177 | 19,350,411 |
| nssv15606079 | Submitted genomic | NC_000020.10:g.(?_ 11716825)_(1933105 5_?)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 11,716,825 | 19,331,055 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15606079 | GRCh37: NC_000020.10:g.(?_11716825)_(19331055_?)dup | copy number gain | maternal | not provided | Pathogenic | ClinVar | RCV000767743.1, VCV000625735.1 |