A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5944840



Internal ID22720311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:67559201..67559322hg38UCSC Ensembl
chr14:68025918..68026039hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17387015
Samples
Known GenesPLEKHH1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5944840
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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