A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16888969



Internal ID166704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:119373452..119373505hg38UCSC Ensembl
chr1:119916075..119916128hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5423659
Supporting Variants
Samples
Known GenesHAO2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16888969
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