A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5644918



Internal ID21593223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46753337..46753337hg38UCSC Ensembl
chr19:47256594..47256594hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17105096
SamplesHG00731
Known GenesFKRP
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5644918
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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