A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040329



Internal ID18782860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:98517154..98556712hg38UCSC Ensembl
Innerchr12:98910932..98950490hg19UCSC Ensembl
Innerchr12:97435063..97474621hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3839559
hg1939559
hg1839559
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524849, nssv3524850
Samples
Known GenesTMPO
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040329
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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