A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17640262



Internal ID21832309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:28730264..28730264hg38UCSC Ensembl
chr22:29126252..29126252hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6109564
Supporting Variants
Samples
Known GenesCHEK2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17640262
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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