A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2298854



Internal ID17381002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:138636313..138653531hg38UCSC Ensembl
Innerchr3:138355155..138372373hg19UCSC Ensembl
Innerchr3:139837845..139855063hg18UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg3817219
hg1917219
hg1817219
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967070
Supporting Variants
SamplesHGDP00456
Known GenesPIK3CB
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)nssv2298854
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer