A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3708084



Internal ID19006365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7801358..7908107hg38UCSC Ensembl
Innerchr12:7953954..8060703hg19UCSC Ensembl
Innerchr12:7845221..7951970hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38106750
hg19106750
hg18106750
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1036564
Supporting Variants
Samples
Known GenesSLC2A14
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3708084
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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