A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2356370



Internal ID17541058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:55942153..55947893hg38UCSC Ensembl
Innerchr5:55237981..55243721hg19UCSC Ensembl
Innerchr5:55273738..55279478hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg385741
hg195741
hg185741
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968176
Supporting Variants
SamplesHGDP01307
Known GenesIL6ST
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)nssv2356370
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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