A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2275951



Internal ID17734428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:17874136..17879900hg38UCSC Ensembl
Innerchr3:17915628..17921392hg19UCSC Ensembl
Innerchr3:17890632..17896396hg18UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg385765
hg195765
hg185765
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966994
Supporting Variants
SamplesHGDP00456
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)nssv2275951
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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