A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3520695



Internal ID18818976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2116879..2142703hg38UCSC Ensembl
Innerchr12:2226045..2251869hg19UCSC Ensembl
Innerchr12:2096306..2122130hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3825825
hg1925825
hg1825825
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1052890
Supporting Variants
Samples
Known GenesCACNA1C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3520695
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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