A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4765750



Internal ID20541610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:52248857..52248857hg38UCSC Ensembl
chr16:52282769..52282769hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16275553
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4765750
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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