A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511206



Internal ID15503945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:184380059..184380771hg38UCSC Ensembl
Outerchr3:184379999..184381418hg38UCSC Ensembl
Innerchr3:184097847..184098559hg19UCSC Ensembl
Outerchr3:184097787..184099206hg19UCSC Ensembl
Innerchr3:185580541..185581253hg18UCSC Ensembl
Outerchr3:185580481..185581900hg18UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg381420
hg191420
hg181420
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626621
Samples1
Known GenesCHRD
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511206
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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