A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6079547



Internal ID21988780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:172960875..172960875hg38UCSC Ensembl
chr3:172678665..172678665hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17542644
Samples
Known GenesSPATA16
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6079547
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