A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3563012



Internal ID22431754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:2129427..2129427hg38UCSC Ensembl
chr3:2171111..2171111hg19UCSC Ensembl
Cytoband3p26.3
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 Variantsnssv14305033, nssv14305032, nssv14305034
SamplesHG00512, HG00513, HG00514
Known GenesCNTN4, CNTN4-AS2
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)nsv3563012
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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