A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3565142



Internal ID22433863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:121651145..121651145hg38UCSC Ensembl
chr8:122663385..122663385hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38232
hg19232
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14344221, nssv14344225, nssv14344224, nssv14344220, nssv14344222, nssv14344226, nssv14344223, nssv14344219
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
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)nsv3565142
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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