A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040284



Internal ID19129503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7851817..7969723hg38UCSC Ensembl
Innerchr12:8004413..8122319hg19UCSC Ensembl
Innerchr12:7895680..8013586hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38117907
hg19117907
hg18117907
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1355n100
Supporting Variantsnssv3708125, nssv3505925, nssv3516540, nssv3509125, nssv3504116, nssv3513575, nssv3516675, nssv3504307, nssv3708124
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)nsv1040284
Frequency
Sample Size11257
Observed Gain7
Observed Loss2
Observed Complex0
Frequencyn/a


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