A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3548732



Internal ID22417682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:67782882..67782882hg38UCSC Ensembl
chr16:67816785..67816785hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38216
hg19216
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14444727, nssv14387727, nssv14417370
SamplesNA19240, HG00733, HG00514
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)nsv3548732
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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