A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4758014



Internal ID20533874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:57716439..57716439hg38UCSC Ensembl
chr11:57483911..57483911hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16281647
Samples
Known GenesTMX2, TMX2-CTNND1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4758014
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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