A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16965358



Internal ID44224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:43782548..43794850hg38UCSC Ensembl
chr5:43782650..43794952hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3812303
hg1912303
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5466936
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16965358
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001405


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