A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1907849



Internal ID17524992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:126393343..126396660hg38UCSC Ensembl
Innerchr11:126263238..126266555hg19UCSC Ensembl
Innerchr11:125768448..125771765hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg383318
hg193318
hg183318
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975995
Supporting Variants
SamplesHGDP01284
Known GenesST3GAL4
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)nssv1907849
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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