A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14417009



Internal ID22153011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:78697450..78697450hg38UCSC Ensembl
chr13:79271585..79271585hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3524712
Supporting Variants
SamplesHG00514
Known Genes
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)nssv14417009
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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