A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6404240



Internal ID21061793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:109791362..110311762hg38UCSC Ensembl
chr5:109127063..109647463hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg38520401
hg19520401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5884n223
Supporting Variantsnssv18213323
Samples
Known GenesLOC100289673, MAN2A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6404240
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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