A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14403981



Internal ID22308497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:65457302..65457302hg38UCSC Ensembl
chrX:64677182..64677182hg19UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg38345
hg19345
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3558473
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14403981
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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