A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4747253



Internal ID20523270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:93417796..93422391hg38UCSC Ensembl
chr14:93884142..93888737hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg384596
hg194596
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16274829
Samples
Known GenesUNC79
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4747253
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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