A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520027



Internal ID22389435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:55038729..55038729hg38UCSC Ensembl
chr17:53116090..53116090hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38337
hg19337
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14372708
SamplesNA19240
Known GenesSTXBP4
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)nsv3520027
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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