A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5426775



Internal ID205695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:51669859..51669910hg38UCSC Ensembl
chr14:52136577..52136628hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696185
Samples
Known GenesFRMD6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5426775
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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