A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4755540



Internal ID20531400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:191975324..191975324hg38UCSC Ensembl
chr2:192840050..192840050hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16269131
Samples
Known GenesTMEFF2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4755540
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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