A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423254



Internal ID202275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49536466..49536517hg38UCSC Ensembl
chr13:50110602..50110653hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38264
hg19264
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687643
Samples
Known GenesRCBTB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423254
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