A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv786507



Internal ID15733777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2105904..2107792hg38UCSC Ensembl
Innerchr12:2215070..2216958hg19UCSC Ensembl
Innerchr12:2085331..2087219hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381889
hg191889
hg181889
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557030
Supporting Variants
Samples
Known GenesCACNA1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv786507
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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