A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557775



Internal ID15998498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:24539449..25204746hg38UCSC Ensembl
Innerchr12:24692383..25357680hg19UCSC Ensembl
Innerchr12:24583650..25248947hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38665298
hg19665298
hg18665298
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175449
SamplesNINDS_249
Known GenesBCAT1, C12orf77, CASC1, LINC00477, LRMP, LYRM5, SOX5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557775
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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