A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5510139



Internal ID286768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:29805623..29811605hg38UCSC Ensembl
chr14:30274829..30280811hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg385983
hg195983
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17695484
Samples
Known GenesPRKD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5510139
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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