A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2291317



Internal ID17418477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:109403659..109410119hg38UCSC Ensembl
Innerchr3:109122506..109128966hg19UCSC Ensembl
Innerchr3:110605196..110611656hg18UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg386461
hg196461
hg186461
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963350
Supporting Variants
SamplesHGDP00542
Known GenesFLJ25363
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)nssv2291317
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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