A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17715172



Internal ID138838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:811315..811365hg38UCSC Ensembl
chr18:811316..811366hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5559167
Supporting Variants
Samples
Known GenesYES1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17715172
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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