A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16898294



Internal ID173005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229100820..229107620hg38UCSC Ensembl
chr1:229236567..229243367hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg386801
hg196801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5439160
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16898294
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.005309


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