A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449280



Internal ID227521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197364543..197367431hg38UCSC Ensembl
chr2:198229267..198232155hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg382889
hg192889
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16923635
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449280
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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