A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558995



Internal ID15999718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:53124036..53227927hg38UCSC Ensembl
Innerchr12:53517820..53621711hg19UCSC Ensembl
Innerchr12:51804087..51907978hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38103892
hg19103892
hg18103892
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2645n54
Supporting Variantsnssv1176310, nssv796280
SamplesNINDS_71
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)nsv558995
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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