A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5457285



Internal ID235334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134127036..134128127hg38UCSC Ensembl
chr5:133462727..133463818hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg381092
hg191092
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16973978
Samples
Known GenesTCF7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5457285
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