A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6554065



Internal ID20927174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43864201..43868200hg38UCSC Ensembl
chr21:45284082..45288081hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg384000
hg194000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18204121
Samples
Known GenesAGPAT3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6554065
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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