A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5502914



Internal ID279762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:103799311..103807537hg38UCSC Ensembl
chr14:104265648..104273874hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg388227
hg198227
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17699553
Samples
Known GenesPPP1R13B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5502914
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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