A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557051



Internal ID15997774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2136470..2148750hg38UCSC Ensembl
Innerchr12:2245636..2257916hg19UCSC Ensembl
Innerchr12:2115897..2128177hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3812281
hg1912281
hg1812281
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2287n54
Supporting Variantsnssv786591, nssv786580, nssv786576, nssv786579, nssv786587, nssv786574, nssv786582, nssv786585, nssv786572, nssv786586, nssv786589, nssv786570, nssv786583, nssv786573, nssv786590, nssv786571, nssv786584, nssv786578, nssv786575, nssv786577, nssv786588, nssv786581
Samples
Known GenesCACNA1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557051
Frequency
Sample Size17421
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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