A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17699248



Internal ID122914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73882769..73882843hg38UCSC Ensembl
chr14:74349472..74349546hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5512966
Supporting Variants
Samples
Known GenesPTGR2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17699248
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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