A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3521907



Internal ID22391323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:878786..878786hg38UCSC Ensembl
chr12:987952..987952hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14416703
SamplesHG00514
Known GenesWNK1
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)nsv3521907
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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