A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14403953



Internal ID22314081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:15401372..15401372hg38UCSC Ensembl
chrX:15419494..15419494hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38298
hg19298
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3522303
Supporting Variants
SamplesNA19240
Known GenesPIR, PIR-FIGF
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)nssv14403953
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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