A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5539083



Internal ID314080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:32154469..32154475hg38UCSC Ensembl
chr14:32623675..32623681hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg381118
hg191118
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17693585
Samples
Known GenesARHGAP5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5539083
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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