A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17717324



Internal ID140990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:35693814..35693859hg38UCSC Ensembl
chr18:33273778..33273823hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38292
hg19292
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5429940
Supporting Variants
Samples
Known GenesGALNT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17717324
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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