A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv562893



Internal ID16003616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:98576401..98577597hg38UCSC Ensembl
Innerchr13:99228655..99229851hg19UCSC Ensembl
Innerchr13:98026656..98027852hg18UCSC Ensembl
Cytoband13q32.2
Allele length
AssemblyAllele length
hg381197
hg191197
hg181197
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3349n54
Supporting Variantsnssv817853, nssv817850, nssv817852, nssv817851
Samples
Known GenesSTK24
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv562893
Frequency
Sample Size17421
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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