A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557730



Internal ID330819
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 StatusM
Merged Variants
Supporting Variantsnssv17049596
Samples
Known GenesSYTL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557730
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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