A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17550890



Internal ID21875245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:129759748..129759748hg38UCSC Ensembl
chr5:129095441..129095441hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6070036
Supporting Variants
Samples
Known GenesKIAA1024L
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17550890
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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