A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18216054



Internal ID20783094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:167959601..168233800hg38UCSC Ensembl
chr6:168360281..168634480hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38274200
hg19274200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6612973
Supporting Variants
Samples
Known GenesFRMD1, HGC6.3, KIF25, KIF25-AS1, MLLT4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18216054
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.01107


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