A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5546614



Internal ID320543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:109027239..109027239hg38UCSC Ensembl
chr9:111789519..111789519hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17027093
Samples
Known GenesTMEM245
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5546614
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