A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523791



Internal ID22393219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:15998430..15998430hg38UCSC Ensembl
chr11:16019976..16019976hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14442788
SamplesHG00733
Known GenesSOX6
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)nsv3523791
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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