A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2073254



Internal ID17863766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:3419040..3421505hg38UCSC Ensembl
Innerchr17:3322334..3324799hg19UCSC Ensembl
Innerchr17:3269084..3271549hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg382466
hg192466
hg182466
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978351
Supporting Variants
SamplesHGDP01284
Known GenesOR3A3
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)nssv2073254
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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