A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14336849



Internal ID22190119
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3189581
Supporting Variants
SamplesHG00731
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)nssv14336849
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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