A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2791063



Internal ID21236401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:57716530..57716530hg38UCSC Ensembl
chr11:57484002..57484002hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13691671
Samples
Known GenesTMX2, TMX2-CTNND1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2791063
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer