A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1153233



Internal ID18852675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:38895729..38895812hg38UCSC Ensembl
Outerchr20:37524372..37524455hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4001155
SamplesKWB1
Known GenesPPP1R16B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1153233
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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