A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17044943



Internal ID97708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:24677239..24682549hg38UCSC Ensembl
chr11:24698785..24704095hg19UCSC Ensembl
Cytoband11p14.3
Allele length
AssemblyAllele length
hg385311
hg195311
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5503040
Supporting Variants
Samples
Known GenesLUZP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17044943
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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