A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14404373



Internal ID22326100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:101137985..101137985hg38UCSC Ensembl
chrX:100392974..100392974hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg38672
hg19672
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3519754
Supporting Variants
SamplesNA19240
Known GenesCENPI
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluS mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14404373
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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