A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17040562



Internal ID94749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:1638000..1687000hg38UCSC Ensembl
chr11:1659230..1708230hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3849001
hg1949001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143975
Supporting Variants
Samples
Known GenesFAM99A, FAM99B, MOB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17040562
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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