A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117818



Internal ID21301084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:19020759..19022883hg38UCSC Ensembl
Innerchr21:20393078..20395202hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg382125
hg192125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv698n145
Supporting Variantsnssv14102552, nssv14101595, nssv14102198, nssv14100864, nssv14102564, nssv14100887, nssv14101961, nssv14100909
Samplessample123, sample14, sample157, sample56, sample417, sample397, sample399, sample36
Known Genes
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117818
Frequency
Sample Size467
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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