A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2515821



Internal ID17813275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:106587753..106591717hg38UCSC Ensembl
Innerchr8:107599981..107603945hg19UCSC Ensembl
Innerchr8:107669157..107673121hg18UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg383965
hg193965
hg183965
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981973
Supporting Variants
SamplesHGDP00927
Known GenesOXR1
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)nssv2515821
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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