A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2061679



Internal ID17732982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:53376730..53387759hg38UCSC Ensembl
Innerchr16:53410642..53421671hg19UCSC Ensembl
Innerchr16:51968143..51979172hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3811030
hg1911030
hg1811030
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv984337
Supporting Variants
SamplesHGDP00456
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)nssv2061679
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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