A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4755672



Internal ID20531532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:58209163..58209163hg38UCSC Ensembl
chr18:55876395..55876395hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38777
hg19777
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16259886
Samples
Known GenesNEDD4L
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4755672
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer