A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192213



Internal ID22342826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:3329166..3329278hg38UCSC Ensembl
chrX:3247207..3247319hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14350980, nssv14350979, nssv14350978, nssv14350977, nssv14350976
SamplesHG00512, NA19238, NA19239, NA19240, HG00513
Known GenesMXRA5
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192213
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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