A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17035108



Internal ID91140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:69264305..69277914hg38UCSC Ensembl
chr10:71024061..71037670hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg3813610
hg1913610
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5485651
Supporting Variants
Samples
Known GenesHK1, HKDC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17035108
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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