A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17600731



Internal ID21792778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64037998..64038386hg38UCSC Ensembl
chr14:64504716..64505104hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38389
hg19389
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6039509
Supporting Variants
Samples
Known GenesMIR548AZ, SYNE2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17600731
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