A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217949



Internal ID22363454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:36359923..36360281hg38UCSC Ensembl
chr13:36934060..36934418hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38359
hg19359
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14368769
SamplesHG00731
Known GenesSPG20, SPG20OS
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217949
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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