A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3532052



Internal ID22401389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:146716195..146716195hg38UCSC Ensembl
chr5:146095758..146095758hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14399908
SamplesNA19240
Known GenesPPP2R2B
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3532052
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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