A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2070465



Internal ID17755096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:86524202..86526440hg38UCSC Ensembl
Innerchr16:86557808..86560046hg19UCSC Ensembl
Innerchr16:85115309..85117547hg18UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg382239
hg192239
hg182239
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974839
Supporting Variants
SamplesHGDP00521
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)nssv2070465
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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