A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440586



Internal ID219086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:198034298..198037886hg38UCSC Ensembl
chr1:198003428..198007016hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg383589
hg193589
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16894558
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440586
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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