A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2172361



Internal ID17789124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:47830026..47832299hg38UCSC Ensembl
Innerchr2:48057165..48059438hg19UCSC Ensembl
Innerchr2:47910669..47912942hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg382274
hg192274
hg182274
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963230
Supporting Variants
SamplesHGDP00665
Known GenesFBXO11
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)nssv2172361
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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