A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520716



Internal ID22390124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46701811..46701811hg38UCSC Ensembl
chr2:46928950..46928950hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14394492, nssv14421213, nssv14447561
SamplesNA19240, HG00733, HG00514
Known GenesSOCS5
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)nsv3520716
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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