A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450126



Internal ID228343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:104433252..104434108hg38UCSC Ensembl
chr2:105049710..105050566hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg38857
hg19857
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16916418
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450126
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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