A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17015750



Internal ID78146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:101931886..101931955hg38UCSC Ensembl
chr8:102944114..102944183hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5478968
Supporting Variants
Samples
Known GenesNCALD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17015750
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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