A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2516445



Internal ID17814805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:106750909..106751532hg38UCSC Ensembl
Innerchr8:107763137..107763760hg19UCSC Ensembl
Innerchr8:107832313..107832936hg18UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38624
hg19624
hg18624
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv971345
Supporting Variants
SamplesHGDP00927
Known GenesOXR1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2516445
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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