A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520487



Internal ID15447780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68218235..68229479hg38UCSC Ensembl
Innerchr4:69083953..69095197hg19UCSC Ensembl
Innerchr4:68766548..68777792hg18UCSC Ensembl
Innerchr4:68912719..68923963hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3811245
hg1911245
hg1811245
hg1711245
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697448
Samples
Known GenesTMPRSS11B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520487
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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