A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14350452



Internal ID22262584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:356825..356920hg38UCSC Ensembl
chrX:317560..317655hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199770
Supporting Variants
SamplesNA19238
Known GenesPPP2R3B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14350452
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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