A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2053065



Internal ID17881764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:25453571..25456020hg38UCSC Ensembl
Innerchr16:25464892..25467341hg19UCSC Ensembl
Innerchr16:25372393..25374842hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg382450
hg192450
hg182450
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978119
Supporting Variants
SamplesHGDP01307
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2053065
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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