A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17040479



Internal ID94693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:123904860..123904924hg38UCSC Ensembl
chr10:125664376..125664440hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5502969
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17040479
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.488128


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