A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17040521



Internal ID94721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:124415289..124415340hg38UCSC Ensembl
chr10:126103858..126103909hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5411601
Supporting Variants
Samples
Known GenesOAT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17040521
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001093


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