A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3564031



Internal ID22432766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:7864822..7864822hg38UCSC Ensembl
chr5:7864935..7864935hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14319478
SamplesNA19238
Known GenesFASTKD3
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)nsv3564031
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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