A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14418932



Internal ID22155810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:54378378..54378378hg38UCSC Ensembl
chr16:54412290..54412290hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3550745
Supporting Variants
SamplesHG00514
Known Genes
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)nssv14418932
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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