A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14399968



Internal ID22304598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:24565343..24565343hg38UCSC Ensembl
chr6:24565571..24565571hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38337
hg19337
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3520903
Supporting Variants
SamplesNA19240
Known GenesKIAA0319
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)nssv14399968
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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