A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5470625



Internal ID248380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:82267479..82273483hg38UCSC Ensembl
chr5:81563298..81569302hg19UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg386005
hg196005
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16968604
Samples
Known GenesRPS23
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5470625
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer