A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv562889



Internal ID16003612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:98576349..98577597hg38UCSC Ensembl
Innerchr13:99228603..99229851hg19UCSC Ensembl
Innerchr13:98026604..98027852hg18UCSC Ensembl
Cytoband13q32.2
Allele length
AssemblyAllele length
hg381249
hg191249
hg181249
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3349n54
Supporting Variantsnssv817832, nssv817829, nssv817841, nssv817830, nssv817843, nssv817834, nssv817833, nssv817831, nssv817837, nssv817838, nssv817840, nssv817835, nssv817828, nssv817842, nssv817836, nssv817839
Samples
Known GenesSTK24
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv562889
Frequency
Sample Size17421
Observed Gain14
Observed Loss2
Observed Complex0
Frequencyn/a


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