A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv563189



Internal ID16003912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:111979751..112146300hg38UCSC Ensembl
Innerchr13:112634065..112800614hg19UCSC Ensembl
Innerchr13:111682066..111848615hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38166550
hg19166550
hg18166550
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1148693
Samples1780862444_A
Known GenesSOX1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv563189
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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