A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5259n54



Internal ID20138683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:83956484..84010961hg38UCSC Ensembl
chr16:83990089..84044566hg19UCSC Ensembl
chr16:82547590..82602067hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3854478
hg1954478
hg1854478
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv573412, nsv573410, nsv573411
Samples
Known GenesNECAB2, OSGIN1, SLC38A8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5259n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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