A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14351671



Internal ID22264062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:33190462..33190779hg38UCSC Ensembl
chrX:33208579..33208896hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3557839
Supporting Variants
SamplesNA19238
Known GenesDMD
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYB8 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14351671
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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