A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511496



Internal ID15850921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:73711125..73711733hg38UCSC Ensembl
Outerchr12:73709387..73719248hg38UCSC Ensembl
Innerchr12:74104905..74105513hg19UCSC Ensembl
Outerchr12:74103167..74113028hg19UCSC Ensembl
Innerchr12:72391172..72391780hg18UCSC Ensembl
Outerchr12:72389434..72399295hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg389862
hg199862
hg189862
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626114
Samples1
Known Genes
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511496
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