A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5425604



Internal ID204563
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 StatusM
Merged Variants
Supporting Variantsnssv17720582
Samples
Known GenesFZR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5425604
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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