A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17040475



Internal ID94691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:123857579..123857650hg38UCSC Ensembl
chr10:125617095..125617166hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5510130
Supporting Variants
Samples
Known GenesCPXM2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17040475
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.032782


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