A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598316



Internal ID16385725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:61331130..61333611hg38UCSC Ensembl
Innerchr5:60626957..60629438hg19UCSC Ensembl
Innerchr5:60662714..60665195hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg382482
hg192482
hg182482
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9812n54
Supporting Variantsnssv1034196
Samples
Known GenesZSWIM6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598316
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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