A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5540618



Internal ID315359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:10502884..10502884hg38UCSC Ensembl
chr19:10613560..10613560hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17721330
Samples
Known GenesKEAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5540618
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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