A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14299480



Internal ID22121159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50750991..50751373hg38UCSC Ensembl
chr20:49367528..49367910hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38383
hg19383
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217600
Supporting Variants
SamplesHG00512
Known GenesPARD6B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14299480
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