A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2282513



Internal ID17864770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:72927718..72933499hg38UCSC Ensembl
Innerchr3:72976869..72982650hg19UCSC Ensembl
Innerchr3:73059559..73065340hg18UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg385782
hg195782
hg185782
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965173
Supporting Variants
SamplesHGDP01284
Known GenesGXYLT2
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)nssv2282513
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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