A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2954n54



Internal ID22770849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:127100802..127568091hg38UCSC Ensembl
chr12:127585347..128052636hg19UCSC Ensembl
chr12:126151300..126618589hg18UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38467290
hg19467290
hg18467290
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560634, nsv560635, nsv560636
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2954n54
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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