A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1883751



Internal ID17738428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:47795347..47797576hg38UCSC Ensembl
Innerchr11:47816899..47819128hg19UCSC Ensembl
Innerchr11:47773475..47775704hg18UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg382230
hg192230
hg182230
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983009
Supporting Variants
SamplesHGDP00456
Known GenesNUP160
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)nssv1883751
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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