A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598765



Internal ID16386174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:82132661..82142325hg38UCSC Ensembl
Innerchr5:81428480..81438144hg19UCSC Ensembl
Innerchr5:81464236..81473900hg18UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg389665
hg199665
hg189665
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9902n54
Supporting Variantsnssv1035324
Samples
Known GenesATG10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598765
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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