A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1883993



Internal ID17391720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:46428430..46429565hg38UCSC Ensembl
Innerchr11:46449980..46451115hg19UCSC Ensembl
Innerchr11:46406556..46407691hg18UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg381136
hg191136
hg181136
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972006
Supporting Variants
SamplesHGDP00456
Known GenesAMBRA1
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)nssv1883993
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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