A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5466830



Internal ID244659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:122801065..122801231hg38UCSC Ensembl
chr5:122136760..122136926hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38167
hg19167
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16973429
Samples
Known GenesSNX2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5466830
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