A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5437716



Internal ID216300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:217510615..217511021hg38UCSC Ensembl
chr2:218375338..218375744hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38407
hg19407
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16923843
Samples
Known GenesDIRC3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5437716
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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