A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17015752



Internal ID78147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:101950362..101950413hg38UCSC Ensembl
chr8:102962590..102962641hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5403948
Supporting Variants
Samples
Known GenesNCALD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17015752
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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