A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14404020



Internal ID22300744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:80215125..80215125hg38UCSC Ensembl
chrX:79470624..79470624hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3558143
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)nssv14404020
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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