A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6534787



Internal ID20908148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:49466701..49513500hg38UCSC Ensembl
chr18:46993071..47039870hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3846800
hg1946800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18194614
Samples
Known GenesC18orf32, MIR1539, RPL17, RPL17-C18orf32, SNORD58A, SNORD58B, SNORD58C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6534787
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