A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523928



Internal ID22393357
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 StatusM
Merged Variants
Supporting Variantsnssv14397927
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)nsv3523928
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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