A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3576958



Internal ID18528553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:10014833..10135998hg38UCSC Ensembl
Innerchr2:10154960..10276125hg19UCSC Ensembl
Innerchr2:10072411..10193576hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38121166
hg19121166
hg18121166
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1007965
Supporting Variants
Samples
Known GenesCYS1, KLF11, RRM2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3576958
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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