A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5956579



Internal ID22731756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:70866940..70866940hg38UCSC Ensembl
chr6:71576643..71576643hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38219
hg19219
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17444754
Samples
Known GenesB3GAT2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5956579
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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