A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2360432



Internal ID17875110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69332852..69335832hg38UCSC Ensembl
Innerchr5:68628679..68631659hg19UCSC Ensembl
Innerchr5:68664435..68667415hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg382981
hg192981
hg182981
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968922
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)nssv2360432
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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