A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598788



Internal ID16386197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:84503605..84611836hg38UCSC Ensembl
Innerchr5:83799423..83907654hg19UCSC Ensembl
Innerchr5:83835179..83943410hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38108232
hg19108232
hg18108232
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9907n54
Supporting Variantsnssv1035433, nssv1035432
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598788
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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