A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4765600



Internal ID20541460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:36360274..36360274hg38UCSC Ensembl
chr13:36934411..36934411hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16271394
Samples
Known GenesSPG20, SPG20OS
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4765600
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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