A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5670388



Internal ID21618693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:28730264..28730264hg38UCSC Ensembl
chr22:29126252..29126252hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17134290
SamplesHG00731
Known GenesCHEK2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5670388
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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