A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17040552



Internal ID94743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:125816870..125816921hg38UCSC Ensembl
chr10:127505439..127505490hg19UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5404942
Supporting Variants
Samples
Known GenesUROS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17040552
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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