A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520047



Internal ID22389455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:188180797..188180797hg38UCSC Ensembl
chr3:187898585..187898585hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14425195, nssv14452021
SamplesHG00733, HG00514
Known GenesFLJ42393, LPP
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)nsv3520047
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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