A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv257n54



Internal ID20133681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45757414..45950676hg38UCSC Ensembl
chr1:46223086..46416348hg19UCSC Ensembl
chr1:45995673..46188935hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38193263
hg19193263
hg18193263
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546160, nsv546159
SamplesHGDP01189
Known GenesMAST2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv257n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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