A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14383917



Internal ID22322044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:42688564..42688564hg38UCSC Ensembl
chr13:43262700..43262700hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3520689
Supporting Variants
SamplesNA19240
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)nssv14383917
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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