A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17697827



Internal ID121493
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 StatusS
Merged Variantsnsv5555868
Supporting Variants
Samples
Known GenesGALNT16
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17697827
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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