A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5479466



Internal ID256990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:76045670..76062036hg38UCSC Ensembl
chr7:75674988..75691354hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3816367
hg1916367
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16998165
Samples
Known GenesMDH2, STYXL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5479466
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