A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14286518



Internal ID22139705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:65866009..65866337hg38UCSC Ensembl
chr18:63533245..63533573hg19UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3188446
Supporting Variants
SamplesHG00513
Known GenesCDH7
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYA5 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14286518
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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