A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417965



Internal ID197148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:81356966..81357017hg38UCSC Ensembl
chr14:81823310..81823361hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17699030
Samples
Known GenesSTON2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417965
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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