A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558987



Internal ID15999710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:53064109..53193684hg38UCSC Ensembl
Innerchr12:53457893..53587468hg19UCSC Ensembl
Innerchr12:51744160..51873735hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38129576
hg19129576
hg18129576
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2644n54
Supporting Variantsnssv796270, nssv796271
Samples
Known GenesCSAD, IGFBP6, ITGB7, SOAT2, SPRYD3, TENC1, ZNF740
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558987
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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