A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv791675



Internal ID15738945
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 StatusS
Merged Variantsnsv558092
Supporting Variants
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)nssv791675
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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