A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521418



Internal ID15448711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:84722520..84816106hg38UCSC Ensembl
Innerchr5:84018338..84111924hg19UCSC Ensembl
Innerchr5:84054094..84147680hg18UCSC Ensembl
Innerchr5:84054094..84147680hg17UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3893587
hg1993587
hg1893587
hg1793587
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698028
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521418
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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