A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14323600



Internal ID22275960
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523392
Supporting Variants
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)nssv14323600
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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