A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2512246



Internal ID17880677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:89242666..89243775hg38UCSC Ensembl
Innerchr8:90254895..90256004hg19UCSC Ensembl
Innerchr8:90324011..90325120hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg381110
hg191110
hg181110
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967614
Supporting Variants
SamplesHGDP01307
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)nssv2512246
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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