A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050339



Internal ID19139558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:92077943..92120770hg38UCSC Ensembl
Innerchr12:92471719..92514546hg19UCSC Ensembl
Innerchr12:90995850..91038677hg18UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3842828
hg1942828
hg1842828
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524825
Samples
Known GenesC12orf79
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050339
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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