A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5464491



Internal ID242368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138934774..138945833hg38UCSC Ensembl
chr5:138270463..138281522hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3811060
hg1911060
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974105
Samples
Known GenesCTNNA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5464491
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