A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17041408



Internal ID95311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:14477109..14478469hg38UCSC Ensembl
chr11:14498655..14500015hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg381361
hg191361
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5512672
Supporting Variants
Samples
Known GenesCOPB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17041408
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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