A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv804n54



Internal ID20134228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212284975..212286221hg38UCSC Ensembl
chr1:212458317..212459563hg19UCSC Ensembl
chr1:210524940..210526186hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381247
hg191247
hg181247
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv549146, nsv549141, nsv549143
Samples
Known GenesPPP2R5A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv804n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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