A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5498742



Internal ID275726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:93904932..93905020hg38UCSC Ensembl
chr14:94371278..94371366hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17699142
Samples
Known GenesFAM181A-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5498742
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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