A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16910985



Internal ID8090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:25417535..25417763hg38UCSC Ensembl
chr2:25640404..25640632hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38229
hg19229
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5444733
Supporting Variants
Samples
Known GenesDTNB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16910985
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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