A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17718378



Internal ID142044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:55309885..55309987hg38UCSC Ensembl
chr18:52977116..52977218hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5517754
Supporting Variants
Samples
Known GenesTCF4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17718378
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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