A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468255



Internal ID246056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:148969163..148973074hg38UCSC Ensembl
chr6:149290299..149294210hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg383912
hg193912
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16988954
Samples
Known GenesUST
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468255
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