A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17683687



Internal ID107353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180569170..180569230hg38UCSC Ensembl
chr1:180538306..180538366hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5421339
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17683687
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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