A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17698685



Internal ID122351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:96262068..96262151hg38UCSC Ensembl
chr14:96728405..96728488hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5505494
Supporting Variants
Samples
Known GenesBDKRB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17698685
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002186


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