A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2516183



Internal ID17781013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:101337028..101341856hg38UCSC Ensembl
Innerchr8:102349256..102354084hg19UCSC Ensembl
Innerchr8:102418432..102423260hg18UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg384829
hg194829
hg184829
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971690
Supporting Variants
SamplesHGDP00665
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)nssv2516183
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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