A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17040241



Internal ID94534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:132193834..132193903hg38UCSC Ensembl
chr10:134007338..134007407hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5507934
Supporting Variants
Samples
Known GenesDPYSL4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17040241
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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