A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511544



Internal ID15850969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:104807698..104808426hg38UCSC Ensembl
Outerchr14:104803442..104810872hg38UCSC Ensembl
Innerchr14:105274035..105274763hg19UCSC Ensembl
Outerchr14:105269779..105277209hg19UCSC Ensembl
Innerchr14:104345080..104345808hg18UCSC Ensembl
Outerchr14:104340824..104348254hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg387431
hg197431
hg187431
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626168
Samples1
Known GenesZBTB42
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511544
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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