A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597439



Internal ID16384848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:21195302..21444589hg38UCSC Ensembl
Innerchr5:21195411..21444698hg19UCSC Ensembl
Innerchr5:21231168..21480455hg18UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38249288
hg19249288
hg18249288
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9646n54
Supporting Variantsnssv1026845
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597439
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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