A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14252237



Internal ID21310981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:23861161..23900815hg38UCSC Ensembl
Outerchr16:23858385..23904819hg38UCSC Ensembl
Innerchr16:23872482..23912136hg19UCSC Ensembl
Outerchr16:23869706..23916140hg19UCSC Ensembl
Innerchr16:23779983..23819637hg18UCSC Ensembl
Outerchr16:23777207..23823641hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg3846435
hg1946435
hg1846435
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170092
Supporting Variants
SamplesPML_2
Known GenesPRKCB
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14252237
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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