A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028296



Internal ID18770827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:130089560..130539144hg38UCSC Ensembl
Innerchr5:129425253..129874837hg19UCSC Ensembl
Innerchr5:129453152..129902736hg18UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg38449585
hg19449585
hg18449585
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3648108
Samples
Known GenesCHSY3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028296
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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