A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14292803



Internal ID22130947
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3562465
Supporting Variants
SamplesHG00513
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)nssv14292803
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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