A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520277



Internal ID15100884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:119864..144480hg38UCSC Ensembl
Innerchr20:100505..125121hg19UCSC Ensembl
Innerchr20:48505..73121hg18UCSC Ensembl
Innerchr20:48505..73121hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3824617
hg1924617
hg1824617
hg1724617
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv662326, nssv693467
Samples
Known GenesDEFB126
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520277
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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