A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17718743



Internal ID142409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:62280992..62281335hg38UCSC Ensembl
chr18:59948225..59948568hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg38344
hg19344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5528737
Supporting Variants
Samples
Known GenesKIAA1468
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17718743
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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