A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16895655



Internal ID171263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:208431883..208433883hg38UCSC Ensembl
chr1:208605228..208607228hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg382001
hg192001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5439409
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16895655
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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