A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17717155



Internal ID140821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:32684411..32684548hg38UCSC Ensembl
chr18:30264374..30264511hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5523176
Supporting Variants
Samples
Known GenesKLHL14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17717155
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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