A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17698495



Internal ID122161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:104927586..104927625hg38UCSC Ensembl
chr14:105393923..105393962hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38456
hg19456
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5557140
Supporting Variants
Samples
Known GenesPLD4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17698495
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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