A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6516956



Internal ID20890317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:48970806..49098691hg38UCSC Ensembl
chr18:46497176..46625061hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38127886
hg19127886
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18193273
Samples
Known GenesDYM, MIR4744
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6516956
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