A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2513832



Internal ID17852837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:97857248..97859409hg38UCSC Ensembl
Innerchr8:98869476..98871637hg19UCSC Ensembl
Innerchr8:98938652..98940813hg18UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg382162
hg192162
hg182162
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967618
Supporting Variants
SamplesHGDP01029
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)nssv2513832
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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