A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14101688



Internal ID21280801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:31434684..31436544hg38UCSC Ensembl
InnerchrX:31452801..31454661hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg381861
hg191861
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3113762
Supporting Variants
Samplessample302
Known GenesDMD
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14101688
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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