A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599090



Internal ID16386499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:99004679..99010810hg38UCSC Ensembl
Innerchr5:98340383..98346514hg19UCSC Ensembl
Innerchr5:98368283..98374414hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg386132
hg196132
hg186132
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1038791
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599090
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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