A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5985486



Internal ID21894829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:101054639..101054697hg38UCSC Ensembl
chr2:101671101..101671159hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17527041
Samples
Known GenesTBC1D8
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5985486
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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