A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2073494



Internal ID17860350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:3277964..3278689hg38UCSC Ensembl
Innerchr17:3181258..3181983hg19UCSC Ensembl
Innerchr17:3128008..3128733hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38726
hg19726
hg18726
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960398
Supporting Variants
SamplesHGDP01284
Known GenesOR3A2
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)nssv2073494
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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