A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv791682



Internal ID15738952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31590260..31591155hg38UCSC Ensembl
Innerchr12:31743194..31744089hg19UCSC Ensembl
Innerchr12:31634461..31635356hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38896
hg19896
hg18896
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv558093
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)nssv791682
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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