A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598823



Internal ID16386232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:85010120..85242450hg38UCSC Ensembl
Innerchr5:84305938..84538268hg19UCSC Ensembl
Innerchr5:84341694..84574024hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38232331
hg19232331
hg18232331
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1035774
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598823
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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