A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5509501



Internal ID286151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:93760148..93767540hg38UCSC Ensembl
chr14:94226494..94233886hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg387393
hg197393
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17699133
Samples
Known GenesPRIMA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5509501
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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