A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17718507



Internal ID142173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:58229720..58232866hg38UCSC Ensembl
chr18:55896952..55900098hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg383147
hg193147
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5516335
Supporting Variants
Samples
Known GenesNEDD4L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17718507
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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