A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1039504



Internal ID18782035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8342348..8627541hg38UCSC Ensembl
Innerchr12:8494944..8780137hg19UCSC Ensembl
Innerchr12:8386211..8671404hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38285194
hg19285194
hg18285194
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1362n100
Supporting Variantsnssv3505990
Samples
Known GenesAICDA, CLEC4D, CLEC4E, CLEC6A, LINC00937
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1039504
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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