A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14394625



Internal ID22323288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:220071658..220071658hg38UCSC Ensembl
chr2:220936379..220936379hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3522758
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluS mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14394625
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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