A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523546



Internal ID22392974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:119647955..119647955hg38UCSC Ensembl
chrX:118781918..118781918hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14403250
SamplesNA19240
Known GenesSEPT6
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)nsv3523546
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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