A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5552535



Internal ID325875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:13971736..13971772hg38UCSC Ensembl
chr19:14082548..14082584hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38165
hg19165
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17721638
Samples
Known GenesRFX1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5552535
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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