A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2049336



Internal ID17805005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18787647..18789086hg38UCSC Ensembl
Innerchr16:18798969..18800408hg19UCSC Ensembl
Innerchr16:18706470..18707909hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg381440
hg191440
hg181440
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv984284
Supporting Variants
SamplesHGDP00778
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)nssv2049336
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer