A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520940



Internal ID15101547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:142845511..142872807hg38UCSC Ensembl
Innerchr8:143926927..143954223hg19UCSC Ensembl
Innerchr8:143923929..143951225hg18UCSC Ensembl
Innerchr8:143923929..143951225hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3827297
hg1927297
hg1827297
hg1727297
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv678107, nssv679788
Samples
Known GenesCYP11B1, GML
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520940
Frequency
Sample Size2026
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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