A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599093



Internal ID16386502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:99008867..99021029hg38UCSC Ensembl
Innerchr5:98344571..98356733hg19UCSC Ensembl
Innerchr5:98372471..98384633hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg3812163
hg1912163
hg1812163
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9956n54
Supporting Variantsnssv1038803, nssv1038801, nssv1038802, nssv1038804
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599093
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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