A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5984430



Internal ID21893773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53665182..53669839hg38UCSC Ensembl
chr1:54130855..54135512hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg384658
hg194658
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17529522
Samples
Known GenesGLIS1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5984430
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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