A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2937n54



Internal ID20136361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124540246..124541491hg38UCSC Ensembl
chr12:125024792..125026037hg19UCSC Ensembl
chr12:123590745..123591990hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381246
hg191246
hg181246
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560551, nsv560550
Samples
Known GenesNCOR2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2937n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss4
Observed Complex0
Frequencyn/a


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