A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558991



Internal ID15999714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:53103618..53211761hg38UCSC Ensembl
Innerchr12:53497402..53605545hg19UCSC Ensembl
Innerchr12:51783669..51891812hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38108144
hg19108144
hg18108144
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2645n54
Supporting Variantsnssv796275
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)nsv558991
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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