A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv586208



Internal ID16373617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:53358752..53416255hg38UCSC Ensembl
Innerchr20:51975291..52032794hg19UCSC Ensembl
Innerchr20:51408698..51466201hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3857504
hg1957504
hg1857504
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150962
SamplesHGDP00228
Known GenesTSHZ2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv586208
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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