A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049468



Internal ID19138687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7851817..7952475hg38UCSC Ensembl
Innerchr12:8004413..8105071hg19UCSC Ensembl
Innerchr12:7895680..7996338hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38100659
hg19100659
hg18100659
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1354n100
Supporting Variantsnssv3505640, nssv3520205, nssv3515275, nssv3510479, nssv3708122, nssv3515582
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)nsv1049468
Frequency
Sample Size11257
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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