A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv586532



Internal ID16027255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:62929801..62968122hg38UCSC Ensembl
Innerchr20:61561153..61599474hg19UCSC Ensembl
Innerchr20:61031598..61069919hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3838322
hg1938322
hg1838322
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152394
Samples1782681096_A
Known GenesDIDO1, GID8, SLC17A9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv586532
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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