A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2938n54



Internal ID20136362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124540246..124541785hg38UCSC Ensembl
chr12:125024792..125026331hg19UCSC Ensembl
chr12:123590745..123592284hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381540
hg191540
hg181540
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560559, nsv560579, nsv560562, nsv560552
Samples
Known GenesNCOR2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2938n54
Frequency
Sample Size17421
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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