A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6511478



Internal ID20884806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28388896..28418728hg38UCSC Ensembl
chr17:26715915..26745746hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3829833
hg1929832
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18181867
Samples
Known GenesSARM1, SLC46A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6511478
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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