A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440489



Internal ID218993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226008935..226014100hg38UCSC Ensembl
chr1:226196636..226201801hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg385166
hg195166
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896784
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440489
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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