A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1878550



Internal ID17738210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:18904615..18973672hg38UCSC Ensembl
Innerchr11:18926162..18995219hg19UCSC Ensembl
Innerchr11:18882738..18951795hg18UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3869058
hg1969058
hg1869058
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975889
Supporting Variants
SamplesHGDP00456
Known GenesMRGPRX1
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)nssv1878550
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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