A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17045388



Internal ID98012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:47824007..47824062hg38UCSC Ensembl
chr11:47845559..47845614hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5506323
Supporting Variants
Samples
Known GenesNUP160
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17045388
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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