A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5987126



Internal ID21896469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:191964311..191964379hg38UCSC Ensembl
chr2:192829037..192829105hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17531533
Samples
Known GenesTMEFF2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5987126
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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