A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3524129



Internal ID22393558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121784277..121784277hg38UCSC Ensembl
chr12:122222183..122222183hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14381944
SamplesNA19240
Known GenesRHOF
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluS mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3524129
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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