A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14464654



Internal ID22230317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:21847579..21847579hg38UCSC Ensembl
chrX:21865697..21865697hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg38338
hg19338
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3524571
Supporting Variants
SamplesHG00733
Known GenesMBTPS2
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)nssv14464654
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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