A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18215541



Internal ID20782581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:129763401..129769500hg38UCSC Ensembl
chr6:130084546..130090645hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg386100
hg196100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6607355
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18215541
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0002


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