A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597813



Internal ID16038536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:35855162..35864488hg38UCSC Ensembl
Innerchr5:35855264..35864590hg19UCSC Ensembl
Innerchr5:35891021..35900347hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg389327
hg199327
hg189327
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1028950
Samples
Known GenesIL7R
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597813
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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