A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2508257



Internal ID17740851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:68525091..68525820hg38UCSC Ensembl
Innerchr8:69437326..69438055hg19UCSC Ensembl
Innerchr8:69599880..69600609hg18UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38730
hg19730
hg18730
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981949
Supporting Variants
SamplesHGDP00456
Known GenesC8orf34
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)nssv2508257
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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