A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2475n54



Internal ID20135899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31590431..31591155hg38UCSC Ensembl
chr12:31743365..31744089hg19UCSC Ensembl
chr12:31634632..31635356hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38725
hg19725
hg18725
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv558098, nsv558096, nsv558097
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)dgv2475n54
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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