A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5519618



Internal ID295967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:51483776..51485988hg38UCSC Ensembl
chr19:51987030..51989242hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg382213
hg192213
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724110
Samples
Known GenesCEACAM18
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5519618
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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