A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6545348



Internal ID20918579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46599381..46669628hg38UCSC Ensembl
chr21:48019294..48089540hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3870248
hg1970247
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18204216
Samples
Known GenesPRMT2, S100B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6545348
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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