A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3558473



Internal ID22427276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:65457302..65457302hg38UCSC Ensembl
chrX:64677182..64677182hg19UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg38346
hg19346
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14403981, nssv14460654, nssv14430753
SamplesNA19240, HG00733, HG00514
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)nsv3558473
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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