A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557012



Internal ID15997735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2105526..2106559hg38UCSC Ensembl
Innerchr12:2214692..2215725hg19UCSC Ensembl
Innerchr12:2084953..2085986hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381034
hg191034
hg181034
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2277n54
Supporting Variantsnssv786398, nssv786400, nssv786399
Samples
Known GenesCACNA1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557012
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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