A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2052769



Internal ID17455849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28337484..28380536hg38UCSC Ensembl
Innerchr16:28348805..28391857hg19UCSC Ensembl
Innerchr16:28256306..28299358hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3843053
hg1943053
hg1843053
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv984297
Supporting Variants
SamplesHGDP00778
Known GenesEIF3C, EIF3CL, NPIPB6
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)nssv2052769
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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