A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17453559



Internal ID22511433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:154114552..154119582hg38UCSC Ensembl
chr1:154087028..154092058hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg385031
hg195031
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5828244
Supporting Variants
Samples
Known GenesNUP210L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17453559
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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