A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5549026



Internal ID322728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:43805410..43805419hg38UCSC Ensembl
chr11:43826960..43826969hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17044974
Samples
Known GenesHSD17B12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5549026
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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