A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1039821



Internal ID19129040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:38565843..38727776hg38UCSC Ensembl
Innerchr12:38959645..39121578hg19UCSC Ensembl
Innerchr12:37245912..37407845hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38161934
hg19161934
hg18161934
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1488n100
Supporting Variantsnssv3523093
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)nsv1039821
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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