A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5904480



Internal ID22679657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:185422090..185422146hg38UCSC Ensembl
chr4:186343244..186343300hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17410036
Samples
Known GenesUFSP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5904480
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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