A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16907478



Internal ID5773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:79702125..79702303hg38UCSC Ensembl
chr1:80167810..80167988hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38179
hg19179
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5416558
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16907478
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