A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5480157



Internal ID257667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:100486345..100491988hg38UCSC Ensembl
chr9:103248627..103254270hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg385644
hg195644
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17025014
Samples
Known GenesMSANTD3-TMEFF1, TMEFF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5480157
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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