A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598393



Internal ID16385802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:65924514..65926462hg38UCSC Ensembl
Innerchr5:65220342..65222290hg19UCSC Ensembl
Innerchr5:65256098..65258046hg18UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg381949
hg191949
hg181949
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9826n54
Supporting Variantsnssv1034588, nssv1034590, nssv1034589
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598393
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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