A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558092



Internal ID15998815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31590260..31591099hg38UCSC Ensembl
Innerchr12:31743194..31744033hg19UCSC Ensembl
Innerchr12:31634461..31635300hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38840
hg19840
hg18840
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv791675, nssv791674
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)nsv558092
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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