A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17716731



Internal ID140397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:25204568..25204619hg38UCSC Ensembl
chr18:22784532..22784583hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5433545
Supporting Variants
Samples
Known GenesZNF521
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17716731
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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