A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5947064



Internal ID22722565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1524220..1550071hg38UCSC Ensembl
chr19:1524219..1550070hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3825852
hg1925852
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17395799
Samples
Known GenesPLK5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5947064
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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