A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5985077



Internal ID21894420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:101050053..101050129hg38UCSC Ensembl
chr2:101666515..101666591hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17520113
Samples
Known GenesTBC1D8
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5985077
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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