A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17715136



Internal ID138802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:221546..221597hg38UCSC Ensembl
chr18:221546..221597hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5414034
Supporting Variants
Samples
Known GenesTHOC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17715136
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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