A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557041



Internal ID15997764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2126462..2160422hg38UCSC Ensembl
Innerchr12:2235628..2269588hg19UCSC Ensembl
Innerchr12:2105889..2139849hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3833961
hg1933961
hg1833961
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2283n54
Supporting Variantsnssv1175404
SamplesHGDP01303
Known GenesCACNA1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557041
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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