A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16894861



Internal ID170744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:203108794..203113891hg38UCSC Ensembl
chr1:203077922..203083019hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg385098
hg195098
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5451480
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16894861
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