A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16897726



Internal ID172644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244891294..244900777hg38UCSC Ensembl
chr1:245054596..245064079hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg389484
hg199484
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5435972
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16897726
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