A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18184949



Internal ID20751989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:29754730..29767469hg38UCSC Ensembl
chr14:30223936..30236675hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3812740
hg1912740
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6491357
Supporting Variants
Samples
Known GenesPRKD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18184949
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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