A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5994948



Internal ID21904291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:124702333..124703311hg38UCSC Ensembl
chr4:125623488..125624466hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg38979
hg19979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17543811
Samples
Known GenesANKRD50
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5994948
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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