A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17717156



Internal ID140822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:32692885..32692953hg38UCSC Ensembl
chr18:30272848..30272916hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5517061
Supporting Variants
Samples
Known GenesKLHL14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17717156
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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