A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2553093



Internal ID17786557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:78178897..78188733hg38UCSC Ensembl
Innerchr9:80793813..80803649hg19UCSC Ensembl
Innerchr9:79983633..79993469hg18UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg389837
hg199837
hg189837
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv982308
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)nssv2553093
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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