A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16897237



Internal ID172307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:224612351..224612520hg38UCSC Ensembl
chr1:224800053..224800222hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg38170
hg19170
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5452144
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16897237
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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