A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5997607



Internal ID21906950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:53194981..53196101hg38UCSC Ensembl
chr4:54061148..54062268hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg381121
hg191121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17537569
Samples
Known GenesSCFD2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5997607
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