A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14247738



Internal ID21303793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:47950591..48039383hg38UCSC Ensembl
Outerchr16:47948375..48041069hg38UCSC Ensembl
Innerchr16:47984502..48073294hg19UCSC Ensembl
Outerchr16:47982286..48074980hg19UCSC Ensembl
Innerchr16:46542003..46630795hg18UCSC Ensembl
Outerchr16:46539787..46632481hg18UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3892695
hg1992695
hg1892695
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169811
Supporting Variants
SamplesMLY_9
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14247738
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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