A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439522



Internal ID218058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:219236393..219237413hg38UCSC Ensembl
chr2:220101115..220102135hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg381021
hg191021
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16925989
Samples
Known GenesANKZF1, GLB1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439522
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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