A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3189581



Internal ID22340854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:27823846..27824162hg38UCSC Ensembl
chr10:28112775..28113091hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv849n152
Supporting Variantsnssv14336849, nssv14336846, nssv14336851, nssv14336852, nssv14336848, nssv14336850, nssv14336847
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00513, HG00514
Known GenesARMC4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYE5 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3189581
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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