A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14305034



Internal ID22165159
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3563012
Supporting Variants
SamplesHG00514
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)nssv14305034
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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