A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17845916



Internal ID22029559
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 StatusS
Merged Variantsnsv6241696
Supporting Variants
Samples
Known GenesITPK1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17845916
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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