A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14351900



Internal ID22264353
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3520123
Supporting Variants
SamplesNA19238
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)nssv14351900
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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