A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17427066



Internal ID22484936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:415188..506542hg38UCSC Ensembl
chr4:408977..500331hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3891355
hg1991355
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5888439
Supporting Variants
Samples
Known GenesABCA11P, PIGG, ZNF721
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17427066
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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