A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1909763



Internal ID17499452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:130914350..130916156hg38UCSC Ensembl
Innerchr11:130784245..130786051hg19UCSC Ensembl
Innerchr11:130289455..130291261hg18UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg381807
hg191807
hg181807
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976001
Supporting Variants
SamplesHGDP01029
Known GenesSNX19
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)nssv1909763
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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