A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547525



Internal ID321364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:60213660..60213692hg38UCSC Ensembl
chr14:60680378..60680410hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17695955
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547525
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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