A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2373614



Internal ID17869027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:115264040..115266591hg38UCSC Ensembl
Innerchr5:114599737..114602288hg19UCSC Ensembl
Innerchr5:114627636..114630187hg18UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg382552
hg192552
hg182552
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968977
Supporting Variants
SamplesHGDP01284
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)nssv2373614
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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