A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1893674



Internal ID17466908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:66676345..66678236hg38UCSC Ensembl
Innerchr11:66443816..66445707hg19UCSC Ensembl
Innerchr11:66200392..66202283hg18UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg381892
hg191892
hg181892
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975197
Supporting Variants
SamplesHGDP00927
Known GenesRBM4B
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)nssv1893674
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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