A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14424020



Internal ID22163239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:133885082..133885082hg38UCSC Ensembl
chr3:133603926..133603926hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38155
hg19155
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3530099
Supporting Variants
SamplesHG00514
Known GenesRAB6B
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)nssv14424020
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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