A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14303385



Internal ID22187300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:205303519..205305052hg38UCSC Ensembl
chr1:205272647..205274180hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381534
hg191534
Variant TypeCNV duplication
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207582
Supporting Variants
SamplesHG00731
Known GenesNUAK2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14303385
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