A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv562892



Internal ID16003615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:98576401..98577546hg38UCSC Ensembl
Innerchr13:99228655..99229800hg19UCSC Ensembl
Innerchr13:98026656..98027801hg18UCSC Ensembl
Cytoband13q32.2
Allele length
AssemblyAllele length
hg381146
hg191146
hg181146
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3348n54
Supporting Variantsnssv817849, nssv817848
Samples
Known GenesSTK24
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv562892
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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