A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5550747



Internal ID324267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:46727566..46727606hg38UCSC Ensembl
chr20:45356205..45356245hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732690
Samples
Known GenesSLC2A10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5550747
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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