A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2516675



Internal ID17840054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:110105896..110109699hg38UCSC Ensembl
Innerchr8:111118125..111121928hg19UCSC Ensembl
Innerchr8:111187301..111191104hg18UCSC Ensembl
Cytoband8q23.2
Allele length
AssemblyAllele length
hg383804
hg193804
hg183804
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971346
Supporting Variants
SamplesHGDP00998
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)nssv2516675
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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