A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053061



Internal ID19142280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:47553012..47651939hg38UCSC Ensembl
Innerchr12:47946795..48045722hg19UCSC Ensembl
Innerchr12:46233062..46331989hg18UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3898928
hg1998928
hg1898928
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523514, nssv3712460, nssv3523515, nssv3523516, nssv3712462, nssv3712461, nssv3523518, nssv3523517
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053061
Frequency
Sample Size11257
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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