A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16953123



Internal ID36100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:79943381..79966000hg38UCSC Ensembl
chr4:80864535..80887154hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg3822620
hg1922620
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5472290
Supporting Variants
Samples
Known GenesANTXR2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16953123
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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