A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv817530



Internal ID16111486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:94711363..94713465hg38UCSC Ensembl
Innerchr13:95363617..95365719hg19UCSC Ensembl
Innerchr13:94161618..94163720hg18UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg382103
hg192103
hg182103
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv562763
Supporting Variants
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)nssv817530
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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