A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1176310



Internal ID15534447
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 StatusS
Merged Variantsnsv558995
Supporting Variants
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)nssv1176310
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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