A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16889061



Internal ID166777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145931397..145935006hg38UCSC Ensembl
chr1:145500082..145503696hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg383610
hg193615
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5422574
Supporting Variants
Samples
Known GenesLIX1L, LOC100288142, NBPF10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16889061
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