A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16900409



Internal ID1060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:27037365..27040724hg38UCSC Ensembl
chr1:27363856..27367215hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg383360
hg193360
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5423540
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16900409
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