A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5549146



Internal ID322837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40406264..40406264hg38UCSC Ensembl
chr19:40912171..40912171hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38180
hg19180
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17723403
Samples
Known GenesPRX
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5549146
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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