A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16279706



Internal ID20488924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:54534021..54534021hg38UCSC Ensembl
chrX:54560454..54560454hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg381898
hg191898
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4739755
Supporting Variants
Samples
Known GenesGNL3L
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16279706
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