A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600298



Internal ID16041021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:173345250..174645532hg38UCSC Ensembl
Innerchr5:172772253..174072535hg19UCSC Ensembl
Innerchr5:172704859..174005141hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg381300283
hg191300283
hg181300283
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1045489
Samples
Known GenesBOD1, C5orf47, CPEB4, HMP19, LOC101928136, LOC101928154, LOC285593, MIR8056
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600298
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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