A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14392026



Internal ID22307561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64038362..64038362hg38UCSC Ensembl
chr14:64505080..64505080hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38389
hg19389
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3544204
Supporting Variants
SamplesNA19240
Known GenesMIR548AZ, SYNE2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14392026
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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