A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3178400



Internal ID22334965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:165974129..165974435hg38UCSC Ensembl
chr4:166895281..166895587hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6937n152
Supporting Variantsnssv14318581, nssv14318582, nssv14318583
SamplesNA19238, NA19239, NA19240
Known GenesTLL1
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)nsv3178400
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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