A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5484389



Internal ID261800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:77261069..77261511hg38UCSC Ensembl
chr7:76890386..76890828hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38443
hg19443
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16998803
Samples
Known GenesCCDC146
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5484389
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