A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511495



Internal ID15850920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:60128849..60129918hg38UCSC Ensembl
Outerchr12:60124818..60148151hg38UCSC Ensembl
Innerchr12:60522630..60523699hg19UCSC Ensembl
Outerchr12:60518599..60541932hg19UCSC Ensembl
Innerchr12:58808897..58809966hg18UCSC Ensembl
Outerchr12:58804866..58828199hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3823334
hg1923334
hg1823334
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626113
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)nsv511495
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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