A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6519660



Internal ID20893021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:63146370..64608618hg38UCSC Ensembl
chr18:60813603..62275853hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg381462249
hg191462251
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18192413
Samples
Known GenesBCL2, HMSD, KDSR, LINC00305, LOC284294, LOC400654, SERPINB10, SERPINB11, SERPINB12, SERPINB13, SERPINB2, SERPINB3, SERPINB4, SERPINB5, SERPINB7, SERPINB8, VPS4B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6519660
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