A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3531804



Internal ID22401150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:189312160..189312160hg38UCSC Ensembl
chr3:189029949..189029949hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14397811
SamplesNA19240
Known GenesTPRG1
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)nsv3531804
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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