A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4750270



Internal ID20526306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73672310..73672539hg38UCSC Ensembl
chr14:74139013..74139242hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38230
hg19230
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16290808
Samples
Known GenesDNAL1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4750270
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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