A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2940n54



Internal ID20136364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124540246..124545229hg38UCSC Ensembl
chr12:125024792..125029775hg19UCSC Ensembl
chr12:123590745..123595728hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg384984
hg194984
hg184984
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560565, nsv560555, nsv560564, nsv560556
Samples
Known GenesNCOR2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2940n54
Frequency
Sample Size17421
Observed Gain11
Observed Loss6
Observed Complex0
Frequencyn/a


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