A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17617240



Internal ID21809287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64108766..64108766hg38UCSC Ensembl
chr14:64575484..64575484hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6096331
Supporting Variants
Samples
Known GenesMIR548AZ, SYNE2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17617240
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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