A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518699



Internal ID295070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54959247..54960664hg38UCSC Ensembl
chr19:55470615..55472032hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg381418
hg191418
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17725604
Samples
Known GenesRNU6-35P, RNU6-64P
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518699
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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