A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599485



Internal ID16386894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:116659079..116948682hg38UCSC Ensembl
Innerchr5:115994775..116284378hg19UCSC Ensembl
Innerchr5:116022674..116312277hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38289604
hg19289604
hg18289604
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1040571
Samples
Known GenesLOC102467223
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599485
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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