A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520123



Internal ID22389531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:68512345..68512661hg38UCSC Ensembl
chr10:70272102..70272418hg19UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14351900, nssv14351899
SamplesHG00512, NA19238
Known GenesSLC25A16
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)nsv3520123
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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