A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5544118



Internal ID318301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:46632905..46632911hg38UCSC Ensembl
chr20:45261544..45261550hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732685
Samples
Known GenesSLC13A3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5544118
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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