A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17699553



Internal ID123219
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 StatusS
Merged Variantsnsv5502914
Supporting Variants
Samples
Known GenesPPP1R13B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17699553
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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