A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14390313



Internal ID22305038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:24212555..24212555hg38UCSC Ensembl
chr14:24681761..24681761hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38165
hg19165
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3524746
Supporting Variants
SamplesNA19240
Known GenesCHMP4A
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)nssv14390313
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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