A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5507970



Internal ID284674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:23066348..23066525hg38UCSC Ensembl
chr14:23535557..23535734hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17693955
Samples
Known GenesACIN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5507970
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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