A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3113888



Internal ID21297154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179730972..179733870hg38UCSC Ensembl
Innerchr5:179157973..179160871hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg382899
hg192899
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14109452
Samplessample349
Known GenesCANX, MAML1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3113888
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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