A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17716550



Internal ID140216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:21676601..21677852hg38UCSC Ensembl
chr18:19256562..19257813hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg381252
hg191252
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5521885
Supporting Variants
Samples
Known GenesABHD3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17716550
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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