A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv562764



Internal ID16350173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:94711538..94713342hg38UCSC Ensembl
Innerchr13:95363792..95365596hg19UCSC Ensembl
Innerchr13:94161793..94163597hg18UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg381805
hg191805
hg181805
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3326n54
Supporting Variantsnssv817531
Samples
Known GenesSOX21, SOX21-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv562764
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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