A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547850



Internal ID16335259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:151360691..151440704hg38UCSC Ensembl
Innerchr1:151333167..151413180hg19UCSC Ensembl
Innerchr1:149599791..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 Variantsdgv564n54
Supporting Variantsnssv1173176
SamplesHGDP01305
Known GenesPOGZ, PSMB4, SELENBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547850
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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