A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2311121



Internal ID17861704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:3911894..4128149hg38UCSC Ensembl
Innerchr4:3913621..4129876hg19UCSC Ensembl
Innerchr4:3963515..4180777hg18UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg38216256
hg19216256
hg18217263
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967721
Supporting Variants
SamplesHGDP01284
Known GenesFAM86EP
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)nssv2311121
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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