A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555868



Internal ID329017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:69307759..69307810hg38UCSC Ensembl
chr14:69774476..69774527hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg38465
hg19465
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17697827
Samples
Known GenesGALNT16
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555868
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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