A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17720582



Internal ID144248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:3512972..3513023hg38UCSC Ensembl
chr19:3512970..3513021hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5425604
Supporting Variants
Samples
Known GenesFZR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17720582
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001093


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