A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520615



Internal ID22390023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:181016003..181016003hg38UCSC Ensembl
chr2:181880730..181880730hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14448495
SamplesHG00733
Known GenesUBE2E3
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)nsv3520615
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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