A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516539



Internal ID15097146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:407115..410932hg38UCSC Ensembl
Innerchr5:407230..411047hg19UCSC Ensembl
Innerchr5:460230..464047hg18UCSC Ensembl
Innerchr5:460230..464047hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg383818
hg193818
hg183818
hg173818
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv692434, nssv685213, nssv674755, nssv669566, nssv675739, nssv668998, nssv688667, nssv678480, nssv669940, nssv701351, nssv682498, nssv672639
Samples
Known GenesAHRR
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516539
Frequency
Sample Size2026
Observed Gain11
Observed Loss1
Observed Complex0
Frequencyn/a


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