A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558992



Internal ID15999715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:53103618..53224045hg38UCSC Ensembl
Innerchr12:53497402..53617829hg19UCSC Ensembl
Innerchr12:51783669..51904096hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38120428
hg19120428
hg18120428
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2645n54
Supporting Variantsnssv796276
Samples
Known GenesCSAD, ITGB7, RARG, SOAT2, ZNF740
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558992
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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