A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17722088



Internal ID145754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:19194760..19195582hg38UCSC Ensembl
chr19:19305569..19306391hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38823
hg19823
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5516992
Supporting Variants
Samples
Known GenesRFXANK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17722088
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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