A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714642



Internal ID138308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75453311..75453311hg38UCSC Ensembl
chr17:73449392..73449392hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5424867
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17714642
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.034249


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