A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16899787



Internal ID640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:17076812..17111380hg38UCSC Ensembl
chr1:17403307..17437875hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3834569
hg1934569
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5427869
Supporting Variants
Samples
Known GenesPADI2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16899787
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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