A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453114



Internal ID231248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:133921998..133922110hg38UCSC Ensembl
chr2:134679569..134679681hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16919289
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453114
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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