A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2172456



Internal ID17425421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:47883223..47883823hg38UCSC Ensembl
Innerchr2:48110362..48110962hg19UCSC Ensembl
Innerchr2:47963866..47964466hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38601
hg19601
hg18601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979003
Supporting Variants
SamplesHGDP00542
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)nssv2172456
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