A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3515500



Internal ID18813781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7851817..7965561hg38UCSC Ensembl
Innerchr12:8004413..8118157hg19UCSC Ensembl
Innerchr12:7895680..8009424hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38113745
hg19113745
hg18113745
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1041812
Supporting Variants
Samples
Known GenesSLC2A14, SLC2A3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3515500
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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