A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4763450



Internal ID20539310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:17172041..17172041hg38UCSC Ensembl
chr5:17172150..17172150hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg381648
hg191648
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16264463
Samples
Known GenesLOC285696
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4763450
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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