A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3530099



Internal ID22399490
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 StatusM
Merged Variants
Supporting Variantsnssv14424020
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)nsv3530099
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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