A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3187433



Internal ID22339723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:38510614..38510927hg38UCSC Ensembl
chr20:37139257..37139570hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5267n152
Supporting Variantsnssv14408835
SamplesNA19240
Known GenesRALGAPB
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)nsv3187433
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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