A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2060666



Internal ID17818528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55713078..55750376hg38UCSC Ensembl
Innerchr16:55746990..55784288hg19UCSC Ensembl
Innerchr16:54304491..54341789hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3837299
hg1937299
hg1837299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv984338
Supporting Variants
SamplesHGDP00927
Known GenesCES1P2
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)nssv2060666
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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