A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523096



Internal ID22392521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44645747..44646063hg38UCSC Ensembl
chr6:44613484..44613800hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7879n152
Supporting Variantsnssv14327212, nssv14327213, nssv14327214, nssv14327211
SamplesNA19239, HG00731, NA19240, HG00733
Known Genes
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)nsv3523096
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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