A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18236000



Internal ID20803040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:49461501..49477500hg38UCSC Ensembl
chr6:49429214..49445213hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3816000
hg1916000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6409090
Supporting Variants
Samples
Known GenesCENPQ, MUT
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18236000
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00286


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