A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17845883



Internal ID22029526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:51252282..51252282hg38UCSC Ensembl
chr14:51719000..51719000hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6258859
Supporting Variants
Samples
Known GenesTMX1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17845883
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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