A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561015



Internal ID22429809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:57553232..57553232hg38UCSC Ensembl
chr18:55220464..55220464hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38242
hg19242
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14285084, nssv14285083
SamplesHG00513, HG00514
Known GenesFECH
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)nsv3561015
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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