A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv562894



Internal ID16003617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:98576454..98577494hg38UCSC Ensembl
Innerchr13:99228708..99229748hg19UCSC Ensembl
Innerchr13:98026709..98027749hg18UCSC Ensembl
Cytoband13q32.2
Allele length
AssemblyAllele length
hg381041
hg191041
hg181041
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3349n54
Supporting Variantsnssv817856, nssv817854, nssv817855
Samples
Known GenesSTK24
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv562894
Frequency
Sample Size17421
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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