A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042399



Internal ID19131618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7818125..7920829hg38UCSC Ensembl
Innerchr12:7970721..8073425hg19UCSC Ensembl
Innerchr12:7861988..7964692hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38102705
hg19102705
hg18102705
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1351n100
Supporting Variantsnssv3506677
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)nsv1042399
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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