A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1906074



Internal ID17480037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:119015730..119018887hg38UCSC Ensembl
Innerchr11:118886440..118889597hg19UCSC Ensembl
Innerchr11:118391650..118394807hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg383158
hg193158
hg183158
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983067
Supporting Variants
SamplesHGDP00998
Known GenesCCDC84, RPS25, TRAPPC4
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)nssv1906074
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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