A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4737872



Internal ID20513836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50896559..50896616hg38UCSC Ensembl
chr14:51363277..51363334hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16266884
Samples
Known GenesABHD12B
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4737872
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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