A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17718388



Internal ID142054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:55590920..55593562hg38UCSC Ensembl
chr18:53258151..53260793hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg382643
hg192643
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5526096
Supporting Variants
Samples
Known GenesTCF4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17718388
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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