A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6241696



Internal ID22046306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:93106218..93106218hg38UCSC Ensembl
chr14:93572563..93572563hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17845916
Samples
Known GenesITPK1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6241696
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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