A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558094



Internal ID15998817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31590385..31591002hg38UCSC Ensembl
Innerchr12:31743319..31743936hg19UCSC Ensembl
Innerchr12:31634586..31635203hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38618
hg19618
hg18618
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2473n54
Supporting Variantsnssv791684
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)nsv558094
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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