A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596639



Internal ID16384048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:467509..473113hg38UCSC Ensembl
Innerchr5:467624..473228hg19UCSC Ensembl
Innerchr5:520624..526228hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg385605
hg195605
hg185605
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9484n54
Supporting Variantsnssv1021162, nssv1021163
Samples
Known GenesPP7080
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596639
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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