A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207582



Internal ID22355947
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14303383, nssv14303390, nssv14303389, nssv14303386, nssv14303385, nssv14303387, nssv14303388, nssv14303382, nssv14303384
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesNUAK2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207582
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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