A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5502453



Internal ID279319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:87925162..87956828hg38UCSC Ensembl
chr14:88391506..88423172hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg3831667
hg1931667
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17697615
Samples
Known GenesGALC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5502453
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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