A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14395727



Internal ID22297506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36680685..36680685hg38UCSC Ensembl
chr22:37076730..37076730hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3546669
Supporting Variants
SamplesNA19240
Known GenesCACNG2
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)nssv14395727
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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