A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5544513



Internal ID318651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:17246923..17246947hg38UCSC Ensembl
chr8:17104432..17104456hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17008902
Samples
Known GenesVPS37A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5544513
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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