A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18181937



Internal ID20748977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:48929573..48936098hg38UCSC Ensembl
chr18:46455943..46462468hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg386526
hg196526
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6526183
Supporting Variants
Samples
Known GenesSMAD7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18181937
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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