A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3517692



Internal ID18815973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7842179..7944837hg38UCSC Ensembl
Innerchr12:7994775..8097433hg19UCSC Ensembl
Innerchr12:7886042..7988700hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38102659
hg19102659
hg18102659
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1041414
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)nssv3517692
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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