A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14394234



Internal ID22313059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232981166..232981166hg38UCSC Ensembl
chr2:233845876..233845876hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3521261
Supporting Variants
SamplesNA19240
Known GenesNGEF
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)nssv14394234
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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