A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2289366



Internal ID17768781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:89586691..89589955hg38UCSC Ensembl
Innerchr3:89635841..89639105hg19UCSC Ensembl
Innerchr3:89718531..89721795hg18UCSC Ensembl
Cytoband3p11.1
Allele length
AssemblyAllele length
hg383265
hg193265
hg183265
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967036
Supporting Variants
SamplesHGDP00542
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)nssv2289366
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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