A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523392



Internal ID22392819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:147402341..147402645hg38UCSC Ensembl
chr5:146781904..146782208hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38305
hg19305
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14323600
SamplesNA19239
Known GenesDPYSL3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3523392
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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