A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2274721



Internal ID17819038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:15373395..15376120hg38UCSC Ensembl
Innerchr3:15414902..15417627hg19UCSC Ensembl
Innerchr3:15389906..15392631hg18UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg382726
hg192726
hg182726
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965145
Supporting Variants
SamplesHGDP00927
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)nssv2274721
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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