A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3513758



Internal ID18465353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2136684..2149228hg38UCSC Ensembl
Innerchr12:2245850..2258394hg19UCSC Ensembl
Innerchr12:2116111..2128655hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3812545
hg1912545
hg1812545
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1041140
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)nssv3513758
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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