A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3181679



Internal ID22336701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:68691312..68691609hg38UCSC Ensembl
chr15:68983651..68983948hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38298
hg19298
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2970n152
Supporting Variantsnssv14405337
SamplesNA19240
Known GenesCORO2B
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)nsv3181679
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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