A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047648



Internal ID19136867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7821395..7927734hg38UCSC Ensembl
Innerchr12:7973991..8080330hg19UCSC Ensembl
Innerchr12:7865258..7971597hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38106340
hg19106340
hg18106340
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1351n100
Supporting Variantsnssv3518838
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)nsv1047648
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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