A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2043638



Internal ID17469674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:11026016..11031391hg38UCSC Ensembl
Innerchr16:11119873..11125248hg19UCSC Ensembl
Innerchr16:11027374..11032749hg18UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg385376
hg195376
hg185376
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977903
Supporting Variants
SamplesHGDP00927
Known GenesCLEC16A
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)nssv2043638
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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