A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5939188



Internal ID22714577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:29781060..30479820hg38UCSC Ensembl
chr14:30250266..30949026hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38698761
hg19698761
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17377630
Samples
Known GenesPRKD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5939188
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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