A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18224030



Internal ID20791070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:6632917..6698794hg38UCSC Ensembl
chr8:6490438..6556315hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3865878
hg1965878
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6433955
Supporting Variants
Samples
Known GenesMCPH1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18224030
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