A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202159



Internal ID22351360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:47407651..47419700hg38UCSC Ensembl
chr3:47449141..47461190hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3812050
hg1912050
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14306940, nssv14306943, nssv14306942, nssv14306947, nssv14306941, nssv14306946, nssv14306944, nssv14306945, nssv14306939
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesPTPN23, SCAP
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202159
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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