A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14389597



Internal ID22296885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:115347014..115347143hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38130
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3279010
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a SVA mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14389597
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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