A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558090



Internal ID15998813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31590260..31590891hg38UCSC Ensembl
Innerchr12:31743194..31743825hg19UCSC Ensembl
Innerchr12:31634461..31635092hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38632
hg19632
hg18632
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv791670, nssv791669, nssv791671
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)nsv558090
Frequency
Sample Size17421
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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