A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17717823



Internal ID141489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:44892539..44894740hg38UCSC Ensembl
chr18:42472504..42474705hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg382202
hg192202
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5533597
Supporting Variants
Samples
Known GenesSETBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17717823
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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