A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5502118



Internal ID278995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:91627764..91627876hg38UCSC Ensembl
chr14:92094108..92094220hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17697257
Samples
Known GenesCATSPERB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5502118
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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