A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440061



Internal ID218584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:236025043..236044567hg38UCSC Ensembl
chr2:236933687..236953211hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg3819525
hg1919525
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16925143
Samples
Known GenesAGAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440061
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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