A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2355444



Internal ID17864440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:53729464..53760169hg38UCSC Ensembl
Innerchr5:53025294..53055999hg19UCSC Ensembl
Innerchr5:53061051..53091756hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3830706
hg1930706
hg1830706
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980643
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)nssv2355444
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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