A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547044



Internal ID320931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:99131718..99131768hg38UCSC Ensembl
chr9:101894000..101894050hg19UCSC Ensembl
Cytoband9q22.33
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17025490
Samples
Known GenesTGFBR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547044
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer