nsv3910223
- 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:11,048,038
- Description:GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)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: 40623 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 40534 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 9695 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 |
|---|---|---|---|---|---|---|---|
| nsv3910223 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 53,236,165 | 64,284,202 |
| nsv3910223 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 51,852,704 | 62,915,555 |
| nsv3910223 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 51,286,111 | 62,385,999 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138905 | copy number gain | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000143584.6, VCV000155517.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15138905 | Submitted genomic | NC_000020.11:g.(?_ 53236165)_(6428420 2_?)dup | GRCh38 (hg38) | NC_000020.11 | Chr20 | 53,236,165 | 64,284,202 |
| nssv15138905 | Submitted genomic | NC_000020.10:g.(?_ 51852704)_(6291555 5_?)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 51,852,704 | 62,915,555 |
| nssv15138905 | Submitted genomic | NC_000020.9:g.(?_5 1286111)_(62385999 _?)dup | NCBI36 (hg18) | NC_000020.9 | Chr20 | 51,286,111 | 62,385,999 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15138905 | GRCh37: NC_000020.10:g.(?_51852704)_(62915555_?)dup, GRCh38: NC_000020.11:g.(?_53236165)_(64284202_?)dup, NCBI36: NC_000020.9:g.(?_51286111)_(62385999_?)dup | copy number gain | not provided | See cases | Likely pathogenic | ClinVar | RCV000143584.6, VCV000155517.2 | 3 |