A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558099



Internal ID15998822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31590482..31591155hg38UCSC Ensembl
Innerchr12:31743416..31744089hg19UCSC Ensembl
Innerchr12:31634683..31635356hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38674
hg19674
hg18674
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv791695
Samples
Known GenesDENND5B, DENND5B-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558099
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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