A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520654



Internal ID22390062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:59148389..59148723hg38UCSC Ensembl
chr20:57723444..57723778hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg38335
hg19335
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5326n152
Supporting Variantsnssv14301037, nssv14301038, nssv14301036
SamplesNA19238, NA19239, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYG6 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3520654
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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