A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5416646



Internal ID195867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:36863395..36863446hg38UCSC Ensembl
chr14:37332600..37332651hg19UCSC Ensembl
Cytoband14q13.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696908
Samples
Known GenesSLC25A21
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5416646
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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