A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3521511



Internal ID22390926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:33747326..33747643hg38UCSC Ensembl
chr20:32335132..32335449hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5247n152
Supporting Variantsnssv14299884, nssv14299882, nssv14299883
SamplesNA19238, NA19239, NA19240
Known GenesZNF341
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)nsv3521511
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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