A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2474n54



Internal ID20135898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31590260..31591155hg38UCSC Ensembl
chr12:31743194..31744089hg19UCSC Ensembl
chr12:31634461..31635356hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38896
hg19896
hg18896
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv558093, nsv558095
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)dgv2474n54
Frequency
Sample Size17421
Observed Gain10
Observed Loss3
Observed Complex0
Frequencyn/a


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