A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14351674



Internal ID22264067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:33253161..33254237hg38UCSC Ensembl
chrX:33271278..33272354hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg381077
hg191077
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202696
Supporting Variants
SamplesNA19238
Known GenesDMD
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14351674
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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