A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5429160



Internal ID208013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64989608..64989659hg38UCSC Ensembl
chr14:65456326..65456377hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696756
Samples
Known GenesCHURC1-FNTB, FNTB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5429160
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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