A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558994



Internal ID15999717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:53103618..53277765hg38UCSC Ensembl
Innerchr12:53497402..53671549hg19UCSC Ensembl
Innerchr12:51783669..51957816hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38174148
hg19174148
hg18174148
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv796279
Samples
Known GenesCSAD, ESPL1, ITGB7, MFSD5, RARG, SOAT2, ZNF740
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558994
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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