A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451589



Internal ID229767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220214856..220223886hg38UCSC Ensembl
chr1:220388198..220397228hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg389031
hg199031
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896296
Samples
Known GenesRAB3GAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451589
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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