A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562592



Internal ID22431338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:66431859..66431859hg38UCSC Ensembl
chr2:66658991..66658991hg19UCSC Ensembl
Cytoband2p14
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 Variantsnssv14290577, nssv14290576, nssv14290574, nssv14290575, nssv14290578, nssv14290573
SamplesNA19238, HG00731, HG00732, NA19240, HG00733, HG00513
Known GenesMEIS1-AS3
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)nsv3562592
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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