A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv806n54



Internal ID20134230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212285200..212286281hg38UCSC Ensembl
chr1:212458542..212459623hg19UCSC Ensembl
chr1:210525165..210526246hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381082
hg191082
hg181082
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv549145, nsv549147
Samples
Known GenesPPP2R5A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv806n54
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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