A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5523500



Internal ID299729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17976776..17978408hg38UCSC Ensembl
chr19:18087585..18089217hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg381633
hg191633
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17721991
Samples
Known GenesKCNN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5523500
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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