A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3560429



Internal ID22429225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:86909223..86909223hg38UCSC Ensembl
chr14:87375567..87375567hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14390775, nssv14379811, nssv14387708, nssv14373111
SamplesHG00512, NA19239, NA19240, HG00514
Known GenesLOC283585
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)nsv3560429
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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