A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16899925



Internal ID728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:245864628..246151411hg38UCSC Ensembl
chr1:246027930..246314713hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38286784
hg19286784
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5452694
Supporting Variants
Samples
Known GenesSMYD3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16899925
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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