A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598744



Internal ID16039467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:80092922..80127524hg38UCSC Ensembl
Innerchr5:79388745..79423347hg19UCSC Ensembl
Innerchr5:79424501..79459103hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3834603
hg1934603
hg1834603
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1035305
Samples
Known GenesSERINC5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598744
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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