A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18215533



Internal ID20782573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:128958546..129011634hg38UCSC Ensembl
chr6:129279691..129332779hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg3853089
hg1953089
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6601976
Supporting Variants
Samples
Known GenesLAMA2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18215533
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