A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14348734



Internal ID22284107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:17114639..17114639hg38UCSC Ensembl
chr1:17441134..17441134hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3561428
Supporting Variants
SamplesNA19239
Known GenesPADI2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14348734
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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