A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511391



Internal ID15850816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39393511..39539496hg38UCSC Ensembl
Outerchr8:39386829..39541538hg38UCSC Ensembl
Innerchr8:39251030..39397015hg19UCSC Ensembl
Outerchr8:39244348..39399057hg19UCSC Ensembl
Innerchr8:39370187..39516172hg18UCSC Ensembl
Outerchr8:39363505..39518214hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38154710
hg19154710
hg18154710
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625997
Samples1
Known GenesADAM3A, ADAM5
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511391
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