A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6498879



Internal ID20872093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18187095..18246363hg38UCSC Ensembl
chr17:18090409..18149677hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3859269
hg1959269
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18179093
Samples
Known GenesALKBH5, FLII, LLGL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6498879
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