A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523469



Internal ID22392897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:19533698..19534002hg38UCSC Ensembl
chr11:19555245..19555549hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38305
hg19305
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1285n152
Supporting Variantsnssv14356101, nssv14356102
SamplesNA19239, NA19240
Known GenesNAV2
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)nsv3523469
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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