A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17717415



Internal ID141081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:37360791..37361018hg38UCSC Ensembl
chr18:34940754..34940981hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38228
hg19228
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5525639
Supporting Variants
Samples
Known GenesCELF4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17717415
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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