A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562465



Internal ID22431218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113464520..113464520hg38UCSC Ensembl
chr2:114222097..114222097hg19UCSC Ensembl
Cytoband2q13
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 Variantsnssv14292804, nssv14292805, nssv14292807, nssv14292806, nssv14292803
SamplesNA19238, HG00732, NA19240, HG00513, HG00514
Known GenesCBWD2
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)nsv3562465
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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