A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2289772



Internal ID17731996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:101356287..101359139hg38UCSC Ensembl
Innerchr3:101075131..101077983hg19UCSC Ensembl
Innerchr3:102557821..102560673hg18UCSC Ensembl
Cytoband3q12.3
Allele length
AssemblyAllele length
hg382853
hg192853
hg182853
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967045
Supporting Variants
SamplesHGDP00456
Known GenesSENP7
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)nssv2289772
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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