A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14464939



Internal ID22217304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:31257188..31257188hg38UCSC Ensembl
chrX:31275305..31275305hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3522105
Supporting Variants
SamplesHG00733
Known GenesDMD
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluY mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14464939
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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