A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3559726



Internal ID22428522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:119693044..119693044hg38UCSC Ensembl
chr12:120130849..120130849hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14365194, nssv14365193
SamplesHG00732, HG00733
Known GenesCIT
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)nsv3559726
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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