A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17696292



Internal ID119958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54619101..54619152hg38UCSC Ensembl
chr14:55085819..55085870hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5420582
Supporting Variants
Samples
Known GenesSAMD4A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17696292
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001093


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