A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5562934



Internal ID335873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:93106232..93106276hg38UCSC Ensembl
chr14:93572577..93572621hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg38884
hg19884
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17699498
Samples
Known GenesITPK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5562934
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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