A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14377314



Internal ID22317240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:43837637..43837637hg38UCSC Ensembl
chr13:44411773..44411773hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523512
Supporting Variants
SamplesNA19240
Known GenesCCDC122
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)nssv14377314
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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