A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14444727



Internal ID22240681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:67782882..67782882hg38UCSC Ensembl
chr16:67816785..67816785hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38189
hg19189
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3548732
Supporting Variants
SamplesHG00733
Known GenesRANBP10
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)nssv14444727
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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