A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2311297



Internal ID17784070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:4502427..4507991hg38UCSC Ensembl
Innerchr4:4504154..4509718hg19UCSC Ensembl
Innerchr4:4555055..4560619hg18UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg385565
hg195565
hg185565
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966251
Supporting Variants
SamplesHGDP00665
Known GenesSTX18
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)nssv2311297
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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