A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562826



Internal ID22431570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:3475480..3475480hg38UCSC Ensembl
chr2:3479251..3479251hg19UCSC Ensembl
Cytoband2p25.3
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 Variantsnssv14289462, nssv14289461, nssv14289463
SamplesNA19238, NA19239, NA19240
Known GenesTRAPPC12
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)nsv3562826
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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