A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5501412



Internal ID278311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:69274120..69277013hg38UCSC Ensembl
chr14:69740837..69743730hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg382894
hg192894
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17697826
Samples
Known GenesGALNT16
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5501412
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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