A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5416062



Internal ID195302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:89009949..89012910hg38UCSC Ensembl
chr1:89475632..89478593hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg382962
hg192962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16905572
Samples
Known GenesGBP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5416062
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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