A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511607



Internal ID15851032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:40680189..40686711hg38UCSC Ensembl
Outerchr18:40677418..40690234hg38UCSC Ensembl
Innerchr18:38260153..38266675hg19UCSC Ensembl
Outerchr18:38257382..38270198hg19UCSC Ensembl
Innerchr18:36514151..36520673hg18UCSC Ensembl
Outerchr18:36511380..36524196hg18UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3812817
hg1912817
hg1812817
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626237
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)nsv511607
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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