A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2070568



Internal ID17854766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:87268171..87269474hg38UCSC Ensembl
Innerchr16:87301777..87303080hg19UCSC Ensembl
Innerchr16:85859278..85860581hg18UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg381304
hg191304
hg181304
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974840
Supporting Variants
SamplesHGDP01029
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)nssv2070568
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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