A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14101848



Internal ID21288192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:145204365..145274410hg38UCSC Ensembl
InnerchrX:144285885..144355930hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg3870046
hg1970046
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3115795
Supporting Variants
Samplessample413
Known GenesSPANXN1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14101848
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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