nsv3922654
- 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:3,139,157
- Description:GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)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: 9402 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 9390 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 2196 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 |
|---|---|---|---|---|---|---|---|
| nsv3922654 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 37,721,797 | 40,860,953 |
| nsv3922654 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 38,117,804 | 41,256,957 |
| nsv3922654 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000022.9 | Chr22 | 36,447,750 | 39,586,903 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146369 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051685.4, VCV000057943.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146369 | Submitted genomic | NC_000022.11:g.(?_ 37721797)_(4086095 3_?)dup | GRCh38 (hg38) | NC_000022.11 | Chr22 | 37,721,797 | 40,860,953 |
| nssv15146369 | Submitted genomic | NC_000022.10:g.(?_ 38117804)_(4125695 7_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,117,804 | 41,256,957 |
| nssv15146369 | Submitted genomic | NC_000022.9:g.(?_3 6447750)_(39586903 _?)dup | NCBI36 (hg18) | NC_000022.9 | Chr22 | 36,447,750 | 39,586,903 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146369 | GRCh37: NC_000022.10:g.(?_38117804)_(41256957_?)dup, GRCh38: NC_000022.11:g.(?_37721797)_(40860953_?)dup, NCBI36: NC_000022.9:g.(?_36447750)_(39586903_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000051685.4, VCV000057943.1 | 3 |