A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557009



Internal ID15997732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2099049..2106559hg38UCSC Ensembl
Innerchr12:2208215..2215725hg19UCSC Ensembl
Innerchr12:2078476..2085986hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg387511
hg197511
hg187511
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2276n54
Supporting Variantsnssv786395
Samples
Known GenesCACNA1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557009
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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