A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14422774



Internal ID22161477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:28730264..28730264hg38UCSC Ensembl
chr22:29126252..29126252hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38153
hg19153
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3553632
Supporting Variants
SamplesHG00514
Known GenesCHEK2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14422774
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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