A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598666



Internal ID16386075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:75053016..75053491hg38UCSC Ensembl
Innerchr5:74348841..74349316hg19UCSC Ensembl
Innerchr5:74384597..74385072hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38476
hg19476
hg18476
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9881n54
Supporting Variantsnssv1035126
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598666
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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