A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv586353



Internal ID16373762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:58868776..58915193hg38UCSC Ensembl
Innerchr20:57443831..57490248hg19UCSC Ensembl
Innerchr20:56877226..56923643hg18UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg3846418
hg1946418
hg1846418
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151381
Samples1780862414_A
Known GenesGNAS
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv586353
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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