A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17719212



Internal ID142878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:70100784..70107175hg38UCSC Ensembl
chr18:67768020..67774411hg19UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg386392
hg196392
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5528074
Supporting Variants
Samples
Known GenesRTTN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17719212
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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