A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5510942



Internal ID287548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:102934177..102935527hg38UCSC Ensembl
chr14:103400514..103401864hg19UCSC Ensembl
Cytoband14q32.32
Allele length
AssemblyAllele length
hg381351
hg191351
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17698415
Samples
Known GenesCDC42BPB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5510942
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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