A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14397927



Internal ID22330218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:39072186..39072186hg38UCSC Ensembl
chr4:39073806..39073806hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523928
Supporting Variants
SamplesNA19240
Known GenesKLHL5
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluY mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14397927
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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