A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518491



Internal ID15099098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:114299007..114337675hg38UCSC Ensembl
Innerchr13:115064482..115103150hg19UCSC Ensembl
Innerchr13:114082584..114121252hg18UCSC Ensembl
Innerchr13:114082584..114121252hg17UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3838669
hg1938669
hg1838669
hg1738669
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695931
Samples
Known GenesCHAMP1, UPF3A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518491
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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