A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2512920



Internal ID17817445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:92351535..92352154hg38UCSC Ensembl
Innerchr8:93363763..93364382hg19UCSC Ensembl
Innerchr8:93432939..93433558hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38620
hg19620
hg18620
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971336
Supporting Variants
SamplesHGDP00927
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)nssv2512920
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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