A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16916418



Internal ID11663
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 StatusS
Merged Variantsnsv5450126
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16916418
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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