A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16944759



Internal ID30516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:183639371..183639746hg38UCSC Ensembl
chr3:183357159..183357534hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38376
hg19376
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5447448
Supporting Variants
Samples
Known GenesKLHL24
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16944759
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