A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054634



Internal ID19143853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:55088096..55161817hg38UCSC Ensembl
Innerchr12:55481880..55555601hg19UCSC Ensembl
Innerchr12:53768147..53841868hg18UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3873722
hg1973722
hg1873722
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3712490
Samples
Known GenesOR9K2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054634
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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