A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2299669



Internal ID17403760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:139006440..139015560hg38UCSC Ensembl
Innerchr3:138725282..138734402hg19UCSC Ensembl
Innerchr3:140207972..140217092hg18UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg389121
hg199121
hg189121
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967073
Supporting Variants
SamplesHGDP00521
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)nssv2299669
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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