A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14392675



Internal ID22308362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:58209261..58209261hg38UCSC Ensembl
chr18:55876493..55876493hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38352
hg19352
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3551067
Supporting Variants
SamplesNA19240
Known GenesNEDD4L
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)nssv14392675
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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