A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17716705



Internal ID140371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:24755073..24755117hg38UCSC Ensembl
chr18:22335037..22335081hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38299
hg19299
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5429163
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17716705
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002029


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