A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv564n54



Internal ID22768459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151360691..151440704hg38UCSC Ensembl
chr1:151333167..151413180hg19UCSC Ensembl
chr1:149599791..149679804hg18UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3880014
hg1980014
hg1880014
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547851, nsv547850, nsv547849
SamplesHGDP00964, HGDP01308, HGDP01185, HGDP01311, HGDP00782, HGDP01305, HGDP00714, HGDP00127
Known GenesPOGZ, PSMB4, SELENBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv564n54
Frequency
Sample Size17421
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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