A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117041



Internal ID21300307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:14740910..14743502hg38UCSC Ensembl
Innerchr5:14741019..14743611hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg382593
hg192593
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14097351
Samplessample97
Known GenesANKH
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117041
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