A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3522145



Internal ID22391564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:9881368..9881672hg38UCSC Ensembl
chr17:9784685..9784989hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38305
hg19305
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3454n152
Supporting Variantsnssv14382346, nssv14391972, nssv14374594
SamplesNA19238, NA19239, NA19240
Known GenesGLP2R
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYA5 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3522145
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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