A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2385855



Internal ID17836402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:171252366..171261427hg38UCSC Ensembl
Innerchr5:170679370..170688431hg19UCSC Ensembl
Innerchr5:170611975..170621036hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg389062
hg199062
hg189062
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969013
Supporting Variants
SamplesHGDP00998
Known GenesRANBP17
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)nssv2385855
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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