A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14099247



Internal ID21274541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:54926898..54931923hg38UCSC Ensembl
Innerchr16:54960810..54965835hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg385026
hg195026
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3114655
Supporting Variants
Samplessample208
Known GenesCRNDE, IRX5
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14099247
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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