A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523083



Internal ID15103690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:94228955..94417624hg38UCSC Ensembl
Innerchr11:93962121..94150790hg19UCSC Ensembl
Innerchr11:93601769..93790438hg18UCSC Ensembl
Innerchr11:93601769..93790438hg17UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg38188670
hg19188670
hg18188670
hg17188670
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698774
Samples
Known GenesFOLR4, GPR83, MRE11A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523083
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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