A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5490787



Internal ID268036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75913881..76036286hg38UCSC Ensembl
chr7:75543199..75665604hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38122406
hg19122406
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16998142
Samples
Known GenesMIR4651, POR, SNORA14A, STYXL1, TMEM120A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5490787
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