A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5942422



Internal ID22717859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:31693936..31698972hg38UCSC Ensembl
chr14:32163142..32168178hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg385037
hg195037
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17371355
Samples
Known GenesNUBPL
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5942422
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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