A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16293994



Internal ID20503212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:219900995..219900995hg38UCSC Ensembl
chr1:220074337..220074337hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4761003
Supporting Variants
Samples
Known GenesRNU5F-1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16293994
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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