A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17696319



Internal ID119985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:55059087..55059138hg38UCSC Ensembl
chr14:55525805..55525856hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5425261
Supporting Variants
Samples
Known GenesMAPK1IP1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17696319
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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