A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2275678



Internal ID17788016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:26216428..26217147hg38UCSC Ensembl
Innerchr3:26257919..26258638hg19UCSC Ensembl
Innerchr3:26232923..26233642hg18UCSC Ensembl
Cytoband3p24.2
Allele length
AssemblyAllele length
hg38720
hg19720
hg18720
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979811
Supporting Variants
SamplesHGDP00665
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)nssv2275678
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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