A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598410



Internal ID16385819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:68005555..68022086hg38UCSC Ensembl
Innerchr5:67301383..67317914hg19UCSC Ensembl
Innerchr5:67337139..67353670hg18UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg3816532
hg1916532
hg1816532
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1034607
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598410
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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