A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4747227



Internal ID20523244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42181797..42181863hg38UCSC Ensembl
chr1:42647468..42647534hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16273584
Samples
Known GenesFOXJ3
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4747227
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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