A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17698683



Internal ID122349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:96240563..96243354hg38UCSC Ensembl
chr14:96706900..96709691hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg382792
hg192792
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5511205
Supporting Variants
Samples
Known GenesBDKRB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17698683
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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