A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17049596



Internal ID100957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:85747156..85747207hg38UCSC Ensembl
chr11:85458199..85458250hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5557730
Supporting Variants
Samples
Known GenesSYTL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17049596
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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