A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17718343



Internal ID142009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:54561653..54566697hg38UCSC Ensembl
chr18:52228884..52233928hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg385045
hg195045
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5529120
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17718343
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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