A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17041428



Internal ID95322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:14812000..14826000hg38UCSC Ensembl
chr11:14833546..14847546hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg3814001
hg1914001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5499719
Supporting Variants
Samples
Known GenesPDE3B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17041428
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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