A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1877275



Internal ID17847154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:18245351..18248929hg38UCSC Ensembl
Innerchr11:18266898..18270476hg19UCSC Ensembl
Innerchr11:18223474..18227052hg18UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg383579
hg193579
hg183579
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv982990
Supporting Variants
SamplesHGDP01029
Known GenesSAA2, SAA2-SAA4
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)nssv1877275
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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