A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3511369



Internal ID18462964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2136684..2148226hg38UCSC Ensembl
Innerchr12:2245850..2257392hg19UCSC Ensembl
Innerchr12:2116111..2127653hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3811543
hg1911543
hg1811543
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1044866
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)nssv3511369
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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