A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17715265



Internal ID138931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:8704816..8704867hg38UCSC Ensembl
chr18:8704814..8704865hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38124
hg19124
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5429766
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17715265
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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