A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14299092



Internal ID22227307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233012370..233016738hg38UCSC Ensembl
chr2:233877080..233881448hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg384369
hg194369
Variant TypeCNV duplication
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208931
Supporting Variants
SamplesHG00733
Known GenesNGEF
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14299092
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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