A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17377630



Internal ID22435500
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 StatusS
Merged Variantsnsv5939188
Supporting Variants
Samples
Known GenesPRKD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17377630
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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