A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2547360



Internal ID17811879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:63327330..63330148hg38UCSC Ensembl
Innerchr9:67282302..67285120hg19UCSC Ensembl
Innerchr9:66972122..66974940hg18UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg382819
hg192819
hg182819
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv982283
Supporting Variants
SamplesHGDP00927
Known GenesAQP7P1
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)nssv2547360
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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