A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16290078



Internal ID20499296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:23280685..23280685hg38UCSC Ensembl
chr14:23749894..23749894hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38787
hg19787
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4757916
Supporting Variants
Samples
Known GenesHOMEZ
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16290078
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