A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14091051



Internal ID21269782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:200975..293446hg38UCSC Ensembl
Innerchr11:200975..293446hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3892472
hg1992472
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3113376
Supporting Variants
Samplessample143
Known GenesATHL1, BET1L, MIR6743, NLRP6, PSMD13, RIC8A, SIRT3
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14091051
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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