A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv586723



Internal ID16374132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:64048115..64049354hg38UCSC Ensembl
Innerchr20:62679468..62680707hg19UCSC Ensembl
Innerchr20:62149912..62151151hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381240
hg191240
hg181240
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7700n54
Supporting Variantsnssv944145
Samples
Known GenesSOX18
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv586723
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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