A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443763



Internal ID222153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:235572590..235598056hg38UCSC Ensembl
chr2:236481234..236506700hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg3825467
hg1925467
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16928669
Samples
Known GenesAGAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443763
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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