A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054945



Internal ID18797476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:14938693..14980786hg38UCSC Ensembl
Innerchr12:15091627..15133720hg19UCSC Ensembl
Innerchr12:14982894..15024987hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3842094
hg1942094
hg1842094
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1394n100
Supporting Variantsnssv3517970
Samples
Known GenesARHGDIB, PDE6H
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054945
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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