A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14352554



Internal ID22165278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:87413608..87443977hg38UCSC Ensembl
chrX:86668611..86698980hg19UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg3830370
hg1930370
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199403
Supporting Variants
SamplesHG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14352554
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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