A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1892616



Internal ID17431298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:61964459..61965666hg38UCSC Ensembl
Innerchr11:61731931..61733138hg19UCSC Ensembl
Innerchr11:61488507..61489714hg18UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg381208
hg191208
hg181208
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975936
Supporting Variants
SamplesHGDP00665
Known GenesBEST1, FTH1
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)nssv1892616
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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