nsv3914991
- 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:78,830
- Description:GRCh38/hg38 22q13.2(chr22:42967418-43046247)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: 395 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 395 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 99 SVs from 14 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3914991 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 42,967,418 | 43,046,247 |
| nsv3914991 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 43,363,424 | 43,442,253 |
| nsv3914991 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000022.9 | Chr22 | 41,693,368 | 41,772,197 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15122662 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000140774.3, VCV000152139.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15122662 | Submitted genomic | NC_000022.11:g.(?_ 42967418)_(4304624 7_?)dup | GRCh38 (hg38) | NC_000022.11 | Chr22 | 42,967,418 | 43,046,247 |
| nssv15122662 | Submitted genomic | NC_000022.10:g.(?_ 43363424)_(4344225 3_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 43,363,424 | 43,442,253 |
| nssv15122662 | Submitted genomic | NC_000022.9:g.(?_4 1693368)_(41772197 _?)dup | NCBI36 (hg18) | NC_000022.9 | Chr22 | 41,693,368 | 41,772,197 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15122662 | GRCh37: NC_000022.10:g.(?_43363424)_(43442253_?)dup, GRCh38: NC_000022.11:g.(?_42967418)_(43046247_?)dup, NCBI36: NC_000022.9:g.(?_41693368)_(41772197_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000140774.3, VCV000152139.1 | 3 |