A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14373612



Internal ID22314273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:58120033..58120033hg38UCSC Ensembl
chr16:58153937..58153937hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38342
hg19342
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3545821
Supporting Variants
SamplesNA19240
Known GenesC16orf80
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)nssv14373612
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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