A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5426897



Internal ID205812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:60274666..60274666hg38UCSC Ensembl
chr14:60741384..60741384hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17695960
Samples
Known GenesPPM1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5426897
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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