A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511540



Internal ID15850965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:104826605..104827021hg38UCSC Ensembl
Outerchr14:104818822..104847756hg38UCSC Ensembl
Innerchr14:105292942..105293358hg19UCSC Ensembl
Outerchr14:105285159..105314093hg19UCSC Ensembl
Innerchr14:104363987..104364403hg18UCSC Ensembl
Outerchr14:104356204..104385138hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3828935
hg1928935
hg1828935
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626163
Samples1
Known GenesLINC00638
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511540
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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