A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17041299



Internal ID95238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:9851458..9851509hg38UCSC Ensembl
chr11:9873005..9873056hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg383163
hg193163
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5563697
Supporting Variants
Samples
Known GenesSBF2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17041299
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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