A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2497565



Internal ID17407383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:23114628..23115234hg38UCSC Ensembl
Innerchr8:22972141..22972747hg19UCSC Ensembl
Innerchr8:23028086..23028692hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38607
hg19607
hg18607
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971632
Supporting Variants
SamplesHGDP00521
Known GenesTNFRSF10C
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)nssv2497565
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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