A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5470360



Internal ID248122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:17336113..17338551hg38UCSC Ensembl
chr6:17336344..17338782hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg382439
hg192439
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16979189
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5470360
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