A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16891205



Internal ID168320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152434587..152462587hg38UCSC Ensembl
chr1:152407063..152435063hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3828001
hg1928001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5419783
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16891205
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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