A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3522827



Internal ID22392251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:86504428..86504428hg38UCSC Ensembl
chr10:88264185..88264185hg19UCSC Ensembl
Cytoband10q23.2
Allele length
AssemblyAllele length
hg383509
hg193509
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14442690
SamplesHG00733
Known GenesWAPAL
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluY mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3522827
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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