A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6005599



Internal ID21914942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:37373299..37375765hg38UCSC Ensembl
chr6:37341075..37343541hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg382467
hg192467
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17574237
Samples
Known GenesRNF8
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6005599
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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