A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1893766



Internal ID17520808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:67715829..67989171hg38UCSC Ensembl
Innerchr11:67483300..67756642hg19UCSC Ensembl
Innerchr11:67239876..67513218hg18UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38273343
hg19273343
hg18273343
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975944
Supporting Variants
SamplesHGDP01284
Known GenesFAM86C2P
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)nssv1893766
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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