nsv3914070
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:18,607,104
- Description:GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 58937 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 58951 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 14187 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3914070 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 80,928 | 18,688,031 |
| nsv3914070 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 61,569 | 18,668,675 |
| nsv3914070 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 9,569 | 18,616,675 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146775 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143426.6, VCV000155359.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146775 | Submitted genomic | NC_000020.11:g.(?_ 80928)_(18688031_? )dup | GRCh38 (hg38) | NC_000020.11 | Chr20 | 80,928 | 18,688,031 |
| nssv15146775 | Submitted genomic | NC_000020.10:g.(?_ 61569)_(18668675_? )dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 61,569 | 18,668,675 |
| nssv15146775 | Submitted genomic | NC_000020.9:g.(?_9 569)_(18616675_?)d up | NCBI36 (hg18) | NC_000020.9 | Chr20 | 9,569 | 18,616,675 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146775 | GRCh37: NC_000020.10:g.(?_61569)_(18668675_?)dup, GRCh38: NC_000020.11:g.(?_80928)_(18688031_?)dup, NCBI36: NC_000020.9:g.(?_9569)_(18616675_?)dup | copy number gain | de novo | See cases | Pathogenic | ClinVar | RCV000143426.6, VCV000155359.2 | 3 |