A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv786388



Internal ID15733658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2052733..2054141hg38UCSC Ensembl
Innerchr12:2161899..2163307hg19UCSC Ensembl
Innerchr12:2032160..2033568hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381409
hg191409
hg181409
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557003
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)nssv786388
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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