A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3180933



Internal ID22336316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:66789291..66789625hg38UCSC Ensembl
chr16:66823194..66823528hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38335
hg19335
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3262n152
Supporting Variantsnssv14459894, nssv14404728, nssv14431016
SamplesNA19240, HG00733, HG00514
Known GenesCCDC79
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3180933
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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