A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045040



Internal ID19134259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:38644312..38690292hg38UCSC Ensembl
Innerchr12:39038114..39084094hg19UCSC Ensembl
Innerchr12:37324381..37370361hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3845981
hg1945981
hg1845981
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523095
Samples
Known GenesCPNE8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1045040
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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