A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17846095



Internal ID22029738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:60254595..60254595hg38UCSC Ensembl
chr14:60721313..60721313hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6258934
Supporting Variants
Samples
Known GenesPPM1A
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17846095
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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