A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14307472



Internal ID22258403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216025398..216025398hg38UCSC Ensembl
chr1:216198740..216198740hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3561326
Supporting Variants
SamplesNA19238
Known GenesUSH2A
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)nssv14307472
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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