A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14392046



Internal ID22211459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:66789302..66789624hg38UCSC Ensembl
chr16:66823205..66823527hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523833
Supporting Variants
SamplesHG00732
Known GenesCCDC79
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14392046
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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