A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3181948



Internal ID22336836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:38510619..38510926hg38UCSC Ensembl
chr20:37139262..37139569hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5267n152
Supporting Variantsnssv14300702, nssv14300700, nssv14300701
SamplesNA19238, NA19239, NA19240
Known GenesRALGAPB
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)nsv3181948
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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