A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1039266



Internal ID18781797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2687905..2740600hg38UCSC Ensembl
Innerchr12:2797071..2849766hg19UCSC Ensembl
Innerchr12:2667332..2720027hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3852696
hg1952696
hg1852696
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1344n100
Supporting Variantsnssv3514757, nssv3512265
Samples
Known GenesCACNA1C, CACNA1C-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1039266
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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