A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14372710



Internal ID22303913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:33190463..33190787hg38UCSC Ensembl
chrX:33208580..33208904hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3277567
Supporting Variants
SamplesNA19240
Known GenesDMD
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14372710
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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