nsv3912762
- 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:32,169
- Description:GRCh38/hg38 22q12.3(chr22:33754145-33786313)x1 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: 208 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 208 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 49 SVs from 12 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|
nsv3912762 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 33,754,145 | 33,786,313 |
nsv3912762 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 34,150,132 | 34,182,300 |
nsv3912762 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000022.9 | Chr22 | 32,480,132 | 32,512,300 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15119795 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051361.6, VCV000057627.1 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|
nssv15119795 | Submitted genomic | NC_000022.11:g.(?_ 33754145)_(3378631 3_?)del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 33,754,145 | 33,786,313 |
nssv15119795 | Submitted genomic | NC_000022.10:g.(?_ 34150132)_(3418230 0_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 34,150,132 | 34,182,300 |
nssv15119795 | Submitted genomic | NC_000022.9:g.(?_3 2480132)_(32512300 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 32,480,132 | 32,512,300 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15119795 | GRCh37: NC_000022.10:g.(?_34150132)_(34182300_?)del, GRCh38: NC_000022.11:g.(?_33754145)_(33786313_?)del, NCBI36: NC_000022.9:g.(?_32480132)_(32512300_?)del | copy number loss | paternal | See cases | Pathogenic | ClinVar | RCV000051361.6, VCV000057627.1 | 1 |