A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3522137



Internal ID18820418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7842179..7982484hg38UCSC Ensembl
Innerchr12:7994775..8135080hg19UCSC Ensembl
Innerchr12:7886042..8026347hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38140306
hg19140306
hg18140306
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1043914
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)nssv3522137
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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