A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17046019



Internal ID98469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:30330094..30330344hg38UCSC Ensembl
chr11:30351641..30351891hg19UCSC Ensembl
Cytoband11p14.1
Allele length
AssemblyAllele length
hg38251
hg19251
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5503134
Supporting Variants
Samples
Known GenesARL14EP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17046019
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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