A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2823n54



Internal ID18994999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99402158..99408847hg38UCSC Ensembl
chr12:99795936..99802625hg19UCSC Ensembl
chr12:98320067..98326756hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg386690
hg196690
hg186690
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv559952, nsv559949
Samples
Known GenesANKS1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2823n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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