A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3522769



Internal ID22392193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109868170..109868170hg38UCSC Ensembl
chr12:110305975..110305975hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38232
hg19232
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14416166, nssv14444012
SamplesHG00733, HG00514
Known GenesGLTP
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)nsv3522769
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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