A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6059749



Internal ID21968982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51257758..51257758hg38UCSC Ensembl
chr1:51723430..51723430hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17522983
Samples
Known GenesRNF11
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6059749
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