A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17716653



Internal ID140319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:23531716..23532926hg38UCSC Ensembl
chr18:21111680..21112890hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg381211
hg191211
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5526270
Supporting Variants
Samples
Known GenesC18orf8, NPC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17716653
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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