A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505494



Internal ID282264
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 StatusM
Merged Variants
Supporting Variantsnssv17698685
Samples
Known GenesBDKRB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5505494
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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