A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16890053



Internal ID167505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145458587..145472587hg38UCSC Ensembl
chr1:145962220..145976237hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3814001
hg1914018
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138317
Supporting Variants
Samples
Known GenesLOC100288142, LOC101929780, NBPF10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16890053
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.008808


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