nsv3917353
- 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:5,357,925
- Description:GRCh38/hg38 20p12.2-12.1(chr20:9290612-14648536)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: 14367 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 14370 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 3427 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3917353 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 9,290,612 | 14,648,536 |
| nsv3917353 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 9,271,259 | 14,629,182 |
| nsv3917353 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 9,219,259 | 14,577,182 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147443 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000138042.5, VCV000148981.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147443 | Submitted genomic | NC_000020.11:g.(?_ 9290612)_(14648536 _?)dup | GRCh38 (hg38) | NC_000020.11 | Chr20 | 9,290,612 | 14,648,536 |
| nssv15147443 | Submitted genomic | NC_000020.10:g.(?_ 9271259)_(14629182 _?)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 9,271,259 | 14,629,182 |
| nssv15147443 | Submitted genomic | NC_000020.9:g.(?_9 219259)_(14577182_ ?)dup | NCBI36 (hg18) | NC_000020.9 | Chr20 | 9,219,259 | 14,577,182 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147443 | GRCh37: NC_000020.10:g.(?_9271259)_(14629182_?)dup, GRCh38: NC_000020.11:g.(?_9290612)_(14648536_?)dup, NCBI36: NC_000020.9:g.(?_9219259)_(14577182_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000138042.5, VCV000148981.2 | 3 |