nsv3911878
- 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:555,642
- Description:GRCh38/hg38 20p12.1(chr20:16073090-16628731)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: 1829 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 1829 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 348 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3911878 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 16,073,090 | 16,628,731 |
| nsv3911878 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 16,053,735 | 16,609,376 |
| nsv3911878 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 16,001,735 | 16,557,376 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15121654 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000135136.3, VCV000145810.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15121654 | Submitted genomic | NC_000020.11:g.(?_ 16073090)_(1662873 1_?)dup | GRCh38 (hg38) | NC_000020.11 | Chr20 | 16,073,090 | 16,628,731 |
| nssv15121654 | Submitted genomic | NC_000020.10:g.(?_ 16053735)_(1660937 6_?)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 16,053,735 | 16,609,376 |
| nssv15121654 | Submitted genomic | NC_000020.9:g.(?_1 6001735)_(16557376 _?)dup | NCBI36 (hg18) | NC_000020.9 | Chr20 | 16,001,735 | 16,557,376 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15121654 | GRCh37: NC_000020.10:g.(?_16053735)_(16609376_?)dup, GRCh38: NC_000020.11:g.(?_16073090)_(16628731_?)dup, NCBI36: NC_000020.9:g.(?_16001735)_(16557376_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000135136.3, VCV000145810.1 | 3 |