A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17725203



Internal ID148869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43831164..43831283hg38UCSC Ensembl
chr19:44335316..44335435hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5525084
Supporting Variants
Samples
Known GenesZNF283
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17725203
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