A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2049246



Internal ID17818244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18782815..18783414hg38UCSC Ensembl
Innerchr16:18794137..18794736hg19UCSC Ensembl
Innerchr16:18701638..18702237hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38600
hg19600
hg18600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974777
Supporting Variants
SamplesHGDP00927
Known GenesRPS15A
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)nssv2049246
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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